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JAMA_FINAL0
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 77-year-old male with history of hypertension and asthma presented with 3 months of progressive decline in vision in the left eye. He had no known ocular history. At presentation, best-corrected visual acuity was 20/100 OD and 20/50 OS. Intraocular pressures were normal bilaterally and pupils were equally reactive. Examination of the right eye was unremarkable except for moderate cataract. The left-eye slitlamp examination was remarkable for a shallow but quiet anterior chamber and moderate cataract. Dilated fundus examination of the left eye revealed shallow peripheral serous choroidal detachments, bullous inferior macula-involving retinal detachment with shifting fluid, and diffuse hyperpigmented lesions involving the macula and superior fundus that corresponded to areas of nodular retinal pigment epithelium thickening on optical coherence tomography (Figure 1). These hyperpigmented lesions were associated with hyperautofluorescence and blockage on fluorescein and indocyanine green angiography. No retinal breaks were seen on scleral depressed examination. Ultrasound biomicroscopy demonstrated 360° ciliochoroidal effusion. Axial length was 24.30 mm OD and 24.32 mm OS. The patient denied a history of known refractive error. ### OUTPUT:
Idiopathic uveal effusion syndrome
['Retinal Disorders', 'Ophthalmic Imaging', 'Ophthalmology', 'Macular Diseases']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 77-year-old female with history of hypertension and asthma presented with 3 months of progressive decline in vision in the left eye. She had no known ocular history. At presentation, best-corrected visual acuity was 20/100 OD and 20/50 OS. Intraocular pressures were normal bilaterally and pupils were equally reactive. Examination of the right eye was unremarkable except for moderate cataract. The left-eye slitlamp examination was remarkable for a shallow but quiet anterior chamber and moderate cataract. Dilated fundus examination of the left eye revealed shallow peripheral serous choroidal detachments, bullous inferior macula-involving retinal detachment with shifting fluid, and diffuse hyperpigmented lesions involving the macula and superior fundus that corresponded to areas of nodular retinal pigment epithelium thickening on optical coherence tomography (Figure 1). These hyperpigmented lesions were associated with hyperautofluorescence and blockage on fluorescein and indocyanine green angiography. No retinal breaks were seen on scleral depressed examination. Ultrasound biomicroscopy demonstrated 360° ciliochoroidal effusion. Axial length was 24.30 mm OD and 24.32 mm OS. The patient denied a history of known refractive error. ### OUTPUT:
JAMA_FINAL1
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 23-year-old male patient sought evaluation at the vascular thyroid surgery clinic for a large neck tumor that appeared abruptly 10 days prior. The patient reported experiencing tightness and discomfort in the left side of the neck but denied experiencing any pain. He denied any recent incidents of neck trauma or impact. Furthermore, his medical history did not reveal any previous hematological disorders. The ultrasonography examination detected the presence of a well-defined, solid mass located in the left lobe of the thyroid gland. The mass exhibited regular shape, distinct boundaries, heterogeneous echogenicity, and observable blood flow signals. Computed tomography (CT) of the neck detected heterogeneous density mass shadows within the soft tissue region near the left lobe of the thyroid, exhibiting distinct boundaries measuring 53 × 41 × 88 mm. Subsequent enhanced CT did not reveal notable enhancement of the cystic components of the mass (Figure 1). Due to persistent symptoms, the patient expressed a desire for surgical resection. Consequently, the patient underwent open surgery to remove the mass, aiming to establish a definitive diagnosis and provide appropriate treatment. ### OUTPUT:
Vagal schwannoma
['Endocrinology', 'Thyroid Disorders', 'Diabetes and Endocrinology', 'Endocrine Surgery', 'Head and Neck Surgery']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 23-year-old female patient sought evaluation at the vascular thyroid surgery clinic for a large neck tumor that appeared abruptly 10 days prior. The patient reported experiencing tightness and discomfort in the left side of the neck but denied experiencing any pain. She denied any recent incidents of neck trauma or impact. Furthermore, her medical history did not reveal any previous hematological disorders. The ultrasonography examination detected the presence of a well-defined, solid mass located in the left lobe of the thyroid gland. The mass exhibited regular shape, distinct boundaries, heterogeneous echogenicity, and observable blood flow signals. Computed tomography (CT) of the neck detected heterogeneous density mass shadows within the soft tissue region near the left lobe of the thyroid, exhibiting distinct boundaries measuring 53 × 41 × 88 mm. Subsequent enhanced CT did not reveal notable enhancement of the cystic components of the mass (Figure 1). Due to persistent symptoms, the patient expressed a desire for surgical resection. Consequently, the patient underwent open surgery to remove the mass, aiming to establish a definitive diagnosis and provide appropriate treatment. ### OUTPUT:
JAMA_FINAL2
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A male patient was evaluated by the dermatology inpatient consult service. He reported a 5-week history of a skin lesion on the right anterior thigh with intermittent itching and mild tenderness to palpation. There was no preceding trauma to the area. The lesion was stable in size. He denied systemic symptoms of fever, chills, cough, shortness of breath, and dyspnea on exertion. He was unhoused and sleeping on the streets with his dog prior to hospitalization. Physical examination was remarkable for a 5-cm erythematous plaque studded with papules and pustules (Figure 1A). No pus or granules could be expressed with pressure. The patient had no similar skin lesions elsewhere on the body. A 6-mm punch biopsy was obtained from the lesion. One half was sent for routine histopathology with special stains, and the other half was submitted for bacterial, fungal, and mycobacterial culture (Figure 1B). ### OUTPUT:
Deep dermatophytosis
['Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A female patient was evaluated by the dermatology inpatient consult service. She reported a 5-week history of a skin lesion on the right anterior thigh with intermittent itching and mild tenderness to palpation. There was no preceding trauma to the area. The lesion was stable in size. She denied systemic symptoms of fever, chills, cough, shortness of breath, and dyspnea on exertion. She was unhoused and sleeping on the streets with her dog prior to hospitalization. Physical examination was remarkable for a 5-cm erythematous plaque studded with papules and pustules (Figure 1A). No pus or granules could be expressed with pressure. The patient had no similar skin lesions elsewhere on the body. A 6-mm punch biopsy was obtained from the lesion. One half was sent for routine histopathology with special stains, and the other half was submitted for bacterial, fungal, and mycobacterial culture (Figure 1B). ### OUTPUT:
JAMA_FINAL3
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 74-year-old woman with a history of breast cancer, now in remission, presented for evaluation of a conjunctival lesion of the right eye. Per her history, the lesion was noted over 18 years in the past by her optometrist. She reported no noticeable growth or changes to the lesion but was sent for evaluation with ocular oncology. Visual acuity with correction was 20/40 in the right eye and 20/30 in the left eye. Intraocular pressure was 14 mm Hg in the right eye and 16 mm Hg in the left eye. Anterior segment examination results were within normal limits for the left eye, and dilated fundus examination results for both eyes did not reveal concerning pathology. The conjunctiva of the right eye was notable for a small elevated pigmented lesion measuring approximately 2 × 2 mm with sentinel vessels (Figure 1A). Fundus photographs and autofluorescence (Figure 1B) as well as optical coherence tomography (OCT) were normal bilaterally. An anterior-segment OCT was performed and revealed a small elevated subepithelial lesion with shadowing vs possible scleral extension (Figure 1B). ### OUTPUT:
Ciliary body melanoma with extrascleral extension masquerading as a conjunctival nevus
['External Eye Disease', 'Ophthalmology', 'Breast Cancer', "Women's Health", 'Oncology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 74-year-old man with a history of breast cancer, now in remission, presented for evaluation of a conjunctival lesion of the right eye. Per his history, the lesion was noted over 18 years in the past by his optometrist. He reported no noticeable growth or changes to the lesion but was sent for evaluation with ocular oncology. Visual acuity with correction was 20/40 in the right eye and 20/30 in the left eye. Intraocular pressure was 14 mm Hg in the right eye and 16 mm Hg in the left eye. Anterior segment examination results were within normal limits for the left eye, and dilated fundus examination results for both eyes did not reveal concerning pathology. The conjunctiva of the right eye was notable for a small elevated pigmented lesion measuring approximately 2 × 2 mm with sentinel vessels (Figure 1A). Fundus photographs and autofluorescence (Figure 1B) as well as optical coherence tomography (OCT) were normal bilaterally. An anterior-segment OCT was performed and revealed a small elevated subepithelial lesion with shadowing vs possible scleral extension (Figure 1B). ### OUTPUT:
JAMA_FINAL4
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 52-year-old woman presented with decreased vision in both eyes. She was diagnosed with type 2 diabetes 3 months before presentation, with a hemoglobin A1c of 13%. At that time, she was given metformin and semaglutide for glucose control. Her visual acuity was 20/50 OD and 20/200 OS. Fundus examination revealed retinal hemorrhages, hard exudates, and microaneurysms bilaterally (Figure, A and B). Fluorescein angiography revealed microaneurysms with noncentral leakage in the posterior pole with absence of significant ischemia and capillary dropout. Optical coherence tomography scans from the same day showed retinal edema with intraretinal fluid accumulation in both eyes (central subfield thickness: 320 nm OD, 764 nm OS) with foveal detachment in the left eye. She was diagnosed with severe nonproliferative diabetic retinopathy with macular edema in both eyes. She received 2 and 3 injections of bevacizumab in the right and left eyes, respectively, followed by 2 injections of aflibercept in both eyes with minimal effect on the edema. Blood analysis showed the following values: hemoglobin, 10.4 g/dL; red blood cell count, 3.30 × 106/μL; white blood cell count, 10 470/μL; platelets, 197 × 103/μL; fasting blood glucose, 150 mg/dL (to convert to mmol/L, multiply by 0.0555); normal lipid profile; and creatinine, 1.2 mg/dL (to convert to μmol/L, multiply by 88.4). Hemoglobin A1c decreased to 6.8% at 7 months after presentation. ### OUTPUT:
Immunoglobulin (Ig) A multiple myeloma with paraproteinemic maculopathy
['Hematology', 'Myeloma', 'Oncology', 'Hematologic Cancer', 'Macular Diseases']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 52-year-old man presented with decreased vision in both eyes. He was diagnosed with type 2 diabetes 3 months before presentation, with a hemoglobin A1c of 13%. At that time, he was given metformin and semaglutide for glucose control. His visual acuity was 20/50 OD and 20/200 OS. Fundus examination revealed retinal hemorrhages, hard exudates, and microaneurysms bilaterally (Figure, A and B). Fluorescein angiography revealed microaneurysms with noncentral leakage in the posterior pole with absence of significant ischemia and capillary dropout. Optical coherence tomography scans from the same day showed retinal edema with intraretinal fluid accumulation in both eyes (central subfield thickness: 320 nm OD, 764 nm OS) with foveal detachment in the left eye. He was diagnosed with severe nonproliferative diabetic retinopathy with macular edema in both eyes. He received 2 and 3 injections of bevacizumab in the right and left eyes, respectively, followed by 2 injections of aflibercept in both eyes with minimal effect on the edema. Blood analysis showed the following values: hemoglobin, 10.4 g/dL; red blood cell count, 3.30 × 106/μL; white blood cell count, 10 470/μL; platelets, 197 × 103/μL; fasting blood glucose, 150 mg/dL (to convert to mmol/L, multiply by 0.0555); normal lipid profile; and creatinine, 1.2 mg/dL (to convert to μmol/L, multiply by 88.4). Hemoglobin A1c decreased to 6.8% at 7 months after presentation. ### OUTPUT:
JAMA_FINAL5
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 31-year-old woman presented for evaluation of bilateral blurry vision over the past month. She experienced fulminant hepatic failure 3 months ago and underwent a liver transplant 2 weeks later. Postoperative pathological results showed hepatolenticular degeneration. Routine prophylactic antiherpes virus therapy had been applied for 2 weeks. Immunosuppressants, including tacrolimus and mycophenolate sodium, were applied for subsequent maintenance therapy. She noticed the onset of decreased vision in both eyes about 2 months after the liver transplant. Diagnosed with ocular herpes virus infection, she was given systemic valaciclovir and ocular laser retinopexy around areas of necrosis. Her vision was not improved and twice intravitreous injection of ganciclovir was added. However, vision was decreasing continuously. At her presentation to our clinic, the best-corrected visual acuity was finger count in the right eye and 20/125 in the left eye. On slitlamp examination of both eyes, 1+ aqueous cells and 1+ flare were presented in the anterior chamber, while the dilated fundus examination showed mild inflammation in the vitreous. Extensive patches of yellowish necrotic lesions were seen at the peripheral retina of the right eye and 1 triangular necrotic lesion in the posterior pole (Figure 1A). A large annular necrosis was found in the peripheral retina of the left eye (Figure 1B). ### OUTPUT:
Toxoplasma retinochoroiditis
['Infectious Diseases', 'Hepatobiliary Disease', 'Choroidal Disorders', 'Gastroenterology and Hepatology', 'Ophthalmology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 31-year-old man presented for evaluation of bilateral blurry vision over the past month. He experienced fulminant hepatic failure 3 months ago and underwent a liver transplant 2 weeks later. Postoperative pathological results showed hepatolenticular degeneration. Routine prophylactic antiherpes virus therapy had been applied for 2 weeks. Immunosuppressants, including tacrolimus and mycophenolate sodium, were applied for subsequent maintenance therapy. He noticed the onset of decreased vision in both eyes about 2 months after the liver transplant. Diagnosed with ocular herpes virus infection, he was given systemic valaciclovir and ocular laser retinopexy around areas of necrosis. His vision was not improved and twice intravitreous injection of ganciclovir was added. However, vision was decreasing continuously. At his presentation to our clinic, the best-corrected visual acuity was finger count in the right eye and 20/125 in the left eye. On slitlamp examination of both eyes, 1+ aqueous cells and 1+ flare were presented in the anterior chamber, while the dilated fundus examination showed mild inflammation in the vitreous. Extensive patches of yellowish necrotic lesions were seen at the peripheral retina of the right eye and 1 triangular necrotic lesion in the posterior pole (Figure 1A). A large annular necrosis was found in the peripheral retina of the left eye (Figure 1B). ### OUTPUT:
JAMA_FINAL6
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 69-year-old man presented to the rheumatology clinic 3 weeks after being hospitalized for fever, fatigue, rash, right periorbital swelling, and shortness of breath. This was his fifth inpatient stay in the past 3 years for similar symptoms. During a recent hospitalization, he had purpuric macules and plaques on his lower extremities bilaterally (Figure, left panel). Laboratory testing revealed a white blood cell count of 2.9 × 103/μL (reference, 4.2-10.8 ×103/μL); mean corpuscular volume, 96.1 fL (reference, 80-96 fL); hemoglobin level, 12.4 mg/dL (reference, 14.0-18.0 mg/dL); and a normal platelet count. C-reactive protein level was 270 mg/L (reference, 0-5 mg/L) and erythrocyte sedimentation rate was 98 mm/h (reference, 0-20 mm/h).Results of testing for antinuclear antibody and antineutrophil cytoplasmic autoantibodies were negative. Computed tomography of the chest revealed numerous small, bilateral pulmonary nodules (Figure, right panel). Magnetic resonance imaging of the brain revealed bilateral inferior rectus muscle enlargement with mild inflammatory changes along the extraocular muscles and optic nerves. A skin biopsy showed a perivascular neutrophilic infiltrate consistent with leukocytoclastic vasculitis. During his most recent hospitalization, he was treated with intravenous methylprednisolone (40 mg twice daily) for 5 days and discharged taking oral prednisone (40 mg daily) for 4 weeks. Previously, he had pericardial and pleural effusions and pulmonary infiltrates. Pericardial biopsy showed organizing pericarditis and lung biopsy revealed cryptogenic organizing pneumonia, with negative IgG4 stains. Results of bone marrow biopsy, including flow cytometry and cytogenetic testing, performed 18 months prior to the current presentation were normal. ### OUTPUT:
VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic) syndrome
['Dermatology', 'External Eye Disease', 'Genetics and Genomics', 'Hematology', 'Ophthalmology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 69-year-old woman presented to the rheumatology clinic 3 weeks after being hospitalized for fever, fatigue, rash, right periorbital swelling, and shortness of breath. This was her fifth inpatient stay in the past 3 years for similar symptoms. During a recent hospitalization, she had purpuric macules and plaques on her lower extremities bilaterally (Figure, left panel). Laboratory testing revealed a white blood cell count of 2.9 × 103/μL (reference, 4.2-10.8 ×103/μL); mean corpuscular volume, 96.1 fL (reference, 80-96 fL); hemoglobin level, 12.4 mg/dL (reference, 14.0-18.0 mg/dL); and a normal platelet count. C-reactive protein level was 270 mg/L (reference, 0-5 mg/L) and erythrocyte sedimentation rate was 98 mm/h (reference, 0-20 mm/h). Results of testing for antinuclear antibody and antineutrophil cytoplasmic autoantibodies were negative. Computed tomography of the chest revealed numerous small, bilateral pulmonary nodules (Figure, right panel). Magnetic resonance imaging of the brain revealed bilateral inferior rectus muscle enlargement with mild inflammatory changes along the extraocular muscles and optic nerves. A skin biopsy showed a perivascular neutrophilic infiltrate consistent with leukocytoclastic vasculitis. During her most recent hospitalization, she was treated with intravenous methylprednisolone (40 mg twice daily) for 5 days and discharged taking oral prednisone (40 mg daily) for 4 weeks. Previously, she had pericardial and pleural effusions and pulmonary infiltrates. Pericardial biopsy showed organizing pericarditis and lung biopsy revealed cryptogenic organizing pneumonia, with negative IgG4 stains. Results of bone marrow biopsy, including flow cytometry and cytogenetic testing, performed 18 months prior to the current presentation were normal. ### OUTPUT:
JAMA_FINAL7
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 62-year-old male was referred for evaluation of a painless right lower-eyelid lesion noted during routine glaucoma follow-up. The lesion had been present for 3 years with slow, gradual enlargement. The patient denied any associated symptoms. He was a former smoker and had no history of skin cancer or immunosuppression. The remainder of his medical history was noncontributory. Inspection of the right lower eyelid revealed a cystic-appearing nodule that transilluminated and had a few overlying telangiectasias. The cystic portion was continuous with a deeper, smooth subcutaneous component that was well defined, firm, and nonmobile, with a total lesion length of 1 cm (Figure 1A). There was no madarosis, eyelid margin effacement or preauricular lymphadenopathy. Although no overt features of malignancy were present, the deeper component was atypical for a hidrocystoma and an excisional biopsy was performed. Histopathologic evaluation showed a neoplasm composed of low-grade round nuclei growing in a micropapillary pattern within pools of extracellular mucin (Figure 1B). There was tumor present at the margin. Immunostains were positive for estrogen receptor and progesterone receptor. Variable staining for INSM1, a sensitive nuclear stain for neuroendocrine differentiation, and focal staining for synaptophysin, another neuroendocrine marker, were also seen. This immunophenotype is consistent with a primary tumor derived from endocrine mucin-producing sweat gland carcinoma or a metastatic mucinous carcinoma of breast origin. ### OUTPUT:
Mucinous carcinoma of the eyelid
['Dermatology', 'External Eye Disease', 'Facial Plastic Surgery', 'Oculoplastic Surgery', 'Oncology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 62-year-old female was referred for evaluation of a painless right lower-eyelid lesion noted during routine glaucoma follow-up. The lesion had been present for 3 years with slow, gradual enlargement. The patient denied any associated symptoms. She was a former smoker and had no history of skin cancer or immunosuppression. The remainder of her medical history was noncontributory. Inspection of the right lower eyelid revealed a cystic-appearing nodule that transilluminated and had a few overlying telangiectasias. The cystic portion was continuous with a deeper, smooth subcutaneous component that was well defined, firm, and nonmobile, with a total lesion length of 1 cm (Figure 1A). There was no madarosis, eyelid margin effacement or preauricular lymphadenopathy. Although no overt features of malignancy were present, the deeper component was atypical for a hidrocystoma and an excisional biopsy was performed. Histopathologic evaluation showed a neoplasm composed of low-grade round nuclei growing in a micropapillary pattern within pools of extracellular mucin (Figure 1B). There was tumor present at the margin. Immunostains were positive for estrogen receptor and progesterone receptor. Variable staining for INSM1, a sensitive nuclear stain for neuroendocrine differentiation, and focal staining for synaptophysin, another neuroendocrine marker, were also seen. This immunophenotype is consistent with a primary tumor derived from endocrine mucin-producing sweat gland carcinoma or a metastatic mucinous carcinoma of breast origin. ### OUTPUT:
JAMA_FINAL8
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 40s presented with a 10-year history of pruritic lesions on the scrotum and buttock. He was diagnosed with eczema and treated at the local clinic with little improvement. He had no relevant medical history and no family history of similar skin problems. Physical examination revealed scattered, well-defined, annular gray hyperkeratotic plaques with an atrophic center and a slightly elevated edge on the scrotum, buttock, groin, and intergluteal cleft (Figure 1A). There was no inguinal adenopathy, and results of routine blood work, including blood biochemistry, syphilis serologies, and HIV testing, were normal or negative. We took 2 specimens from the scrotum and buttock, respectively, for histopathological examination (Figure 1B). ### OUTPUT:
Genital porokeratosis
['Dermatology', 'Urology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 40s presented with a 10-year history of pruritic lesions on the vulva and buttock. She was diagnosed with eczema and treated at the local clinic with little improvement. She had no relevant medical history and no family history of similar skin problems. Physical examination revealed scattered, well-defined, annular gray hyperkeratotic plaques with an atrophic center and a slightly elevated edge on the vulva, buttock, groin, and intergluteal cleft (Figure 1A). There was no inguinal adenopathy, and results of routine blood work, including blood biochemistry, syphilis serologies, and HIV testing, were normal or negative. We took 2 specimens from the vulva and buttock, respectively, for histopathological examination (Figure 1B). ### OUTPUT:
JAMA_FINAL9
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 47-year-old man presented to our clinic with a sudden decrease in vision in the right eye. One month prior, he had presented to the emergency department with binocular diplopia, bilateral cranial nerve 6 palsies, and an undifferentiated pontine mass on brain magnetic resonance imaging. Broad serologic workup results were negative, except for a positive syphilis total antibody with a nonreactive rapid plasma reagin test. Lumbar puncture with flow cytometry and cerebrospinal fluid venereal disease research laboratory test (CSF VDRL) result was also negative. The patient reported a history of syphilis treated with intramuscular penicillin 9 years prior. He was treated with systemic corticosteroids and discharged home on a steroid taper. On our examination, his visual acuity was count fingers in the right eye and 20/20 in the left. He had a right afferent pupillary defect and intraocular pressures were 12 in the right eye and 11 in the left. Anterior segment examination was normal. Posterior examination of the right eye revealed 3+ vitreous cell, 2+ vitreous haze, and a large optic nerve head mass with optic disc hyperemia, scattered dot hemorrhages, and a subtle placoid lesion in the posterior pole (Figure 1A). Optical coherence tomography of the optic nerve demonstrated a large spherical mass protruding out of the optic nerve head (Figure 1B) and granular disruption of the ellipsoid zone in adjacent peripapillary retina. ### OUTPUT:
Syphilitic gumma of optic nerve head and presumed neurosyphilis
['Infectious Diseases', 'Neuro-ophthalmology', 'Neurology', 'Sexually Transmitted Infections', 'LGBTQIA Medicine']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 47-year-old woman presented to our clinic with a sudden decrease in vision in the right eye. One month prior, she had presented to the emergency department with binocular diplopia, bilateral cranial nerve 6 palsies, and an undifferentiated pontine mass on brain magnetic resonance imaging. Broad serologic workup results were negative, except for a positive syphilis total antibody with a nonreactive rapid plasma reagin test. Lumbar puncture with flow cytometry and cerebrospinal fluid venereal disease research laboratory test (CSF VDRL) result was also negative. The patient reported a history of syphilis treated with intramuscular penicillin 9 years prior. She was treated with systemic corticosteroids and discharged home on a steroid taper. On our examination, her visual acuity was count fingers in the right eye and 20/20 in the left. She had a right afferent pupillary defect and intraocular pressures were 12 in the right eye and 11 in the left. Anterior segment examination was normal. Posterior examination of the right eye revealed 3+ vitreous cell, 2+ vitreous haze, and a large optic nerve head mass with optic disc hyperemia, scattered dot hemorrhages, and a subtle placoid lesion in the posterior pole (Figure 1A). Optical coherence tomography of the optic nerve demonstrated a large spherical mass protruding out of the optic nerve head (Figure 1B) and granular disruption of the ellipsoid zone in adjacent peripapillary retina. ### OUTPUT:
JAMA_FINAL10
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 80s presented with mildly pruritic skin lesions on her upper and lower extremities that had progressively appeared during the previous month. The patient had no systemic symptoms or unexplained weight loss. Physical examination revealed erythematous, nondesquamative, annular plaques, some of which had overlying vesicles in a cluster of jewels arrangement on the flexor aspect of both wrists and lower limbs (Figure 1). There was no mucosal involvement, and the Nikolsky sign test result was negative. Chest radiography results were normal and laboratory studies—complete blood cell count, kidney, and hepatic function; urinalysis; and indirect immunofluorescence—were unremarkable except for positive circulating IgG against desmoglein-1 antigen. A skin biopsy specimen was collected from a lesion on the anterior aspect of the left wrist for histopathologic and immunofluorescent analyses, and treatment with oral prednisone (30 mg/d) tapering for 1 month was initiated. ### OUTPUT:
Pemphigus herpetiformis
['Dermatology', 'Pemphigus']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 80s presented with mildly pruritic skin lesions on his upper and lower extremities that had progressively appeared during the previous month. The patient had no systemic symptoms or unexplained weight loss. Physical examination revealed erythematous, nondesquamative, annular plaques, some of which had overlying vesicles in a cluster of jewels arrangement on the flexor aspect of both wrists and lower limbs (Figure 1). There was no mucosal involvement, and the Nikolsky sign test result was negative. Chest radiography results were normal and laboratory studies—complete blood cell count, kidney, and hepatic function; urinalysis; and indirect immunofluorescence—were unremarkable except for positive circulating IgG against desmoglein-1 antigen. A skin biopsy specimen was collected from a lesion on the anterior aspect of the left wrist for histopathologic and immunofluorescent analyses, and treatment with oral prednisone (30 mg/d) tapering for 1 month was initiated. ### OUTPUT:
JAMA_FINAL11
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 11-year-old boy presented to our department with progressive unilateral skin hardening on his right thigh and buttock for 7 years. Recently, the motion of his right limb joint was slightly limited. He was born to healthy parents and did not have any medical disease. On physical examination, there was an ill-defined, stony-hard plaque involving his right thigh above the patella extending to his right buttocks with loss of skin elasticity. The affected skin was associated with mild hypertrichosis and hyperpigmentation (Figure 1A). Laboratory tests revealed normal results for routine blood tests, autoantibodies, immunoglobulins, C-reactive protein, and erythrocyte sedimentation rate. Magnetic resonance imaging of the right thigh demonstrated slight thickening of subcutaneous tissue and T2 signal abnormality (Figure 1B). A skin biopsy was taken from the affected thigh for histopathological examination and alcian blue staining. ### OUTPUT:
Segmental stiff skin syndrome
['Dermatology', 'Connective Tissue Disease of the Skin', 'Pediatrics']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 11-year-old girl presented to our department with progressive unilateral skin hardening on her right thigh and buttock for 7 years. Recently, the motion of her right limb joint was slightly limited. She was born to healthy parents and did not have any medical disease. On physical examination, there was an ill-defined, stony-hard plaque involving her right thigh above the patella extending to her right buttocks with loss of skin elasticity. The affected skin was associated with mild hypertrichosis and hyperpigmentation (Figure 1A). Laboratory tests revealed normal results for routine blood tests, autoantibodies, immunoglobulins, C-reactive protein, and erythrocyte sedimentation rate. Magnetic resonance imaging of the right thigh demonstrated slight thickening of subcutaneous tissue and T2 signal abnormality (Figure 1B). A skin biopsy was taken from the affected thigh for histopathological examination and alcian blue staining. ### OUTPUT:
JAMA_FINAL12
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 30s with myasthenia gravis diagnosed at age 27 years presented to the emergency department with severe erythroderma over the past 2 months. She had excision of a thymoma 10 years before, which was classified as type B2 according to the World Health Organization histologic classification system. She reported severe pruritus in the affected area. She had no history of skin diseases, allergies, or cardiovascular disease. Medications for the patient’s myasthenia gravis included prednisone tablets (20 mg daily), tacrolimus (1.5 mg twice per day), pyridostigmine bromide (30 mg daily), and losartan potassium (50 mg daily) for hypertension. On presentation, the patient’s temperature was 37.8 °C; heart rate, 120 beats/min, blood pressure, 120/65 mm Hg; and oxygen saturation levels, 97% on room air. On physical examination, the confluent erythema with scales involved more than 95% of body surface area, including the patient’s head, trunk (Figure 1A), and extremities, but results on mucosal examination were unremarkable. Laboratory testing results revealed whole white blood cell count of 12 200/μL (81.6% neutrophils; to convert to ×109/L, multiply by 0.001); C-reactive protein levels, 5.58 mg/dL (to convert to mg/L, multiply by 10.0); aspartate aminotransferase levels, 0.7 µkat/L (to convert to IU/L, multiply by 0.0167); alanine aminotransferase levels, 45 IU/L (to convert to µkat/L, multiply by 0.0167); and lactate dehydrogenase levels, 454 IU/L (to convert to µkat/L, multiply by 0.0167). Skin biopsy from the abdomen was performed for histopathologic examination (Figure 1B). ### OUTPUT:
Thymoma-associated multiorgan autoimmunity
['Myasthenia Gravis', 'Neurology', 'Neuromuscular Diseases', 'Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 30s with myasthenia gravis diagnosed at age 27 years presented to the emergency department with severe erythroderma over the past 2 months. He had excision of a thymoma 10 years before, which was classified as type B2 according to the World Health Organization histologic classification system. He reported severe pruritus in the affected area. He had no history of skin diseases, allergies, or cardiovascular disease. Medications for the patient’s myasthenia gravis included prednisone tablets (20 mg daily), tacrolimus (1.5 mg twice per day), pyridostigmine bromide (30 mg daily), and losartan potassium (50 mg daily) for hypertension. On presentation, the patient’s temperature was 37.8 °C; heart rate, 120 beats/min, blood pressure, 120/65 mm Hg; and oxygen saturation levels, 97% on room air. On physical examination, the confluent erythema with scales involved more than 95% of body surface area, including the patient’s head, trunk (Figure 1A), and extremities, but results on mucosal examination were unremarkable. Laboratory testing results revealed whole white blood cell count of 12 200/μL (81.6% neutrophils; to convert to ×109/L, multiply by 0.001); C-reactive protein levels, 5.58 mg/dL (to convert to mg/L, multiply by 10.0); aspartate aminotransferase levels, 0.7 µkat/L (to convert to IU/L, multiply by 0.0167); alanine aminotransferase levels, 45 IU/L (to convert to µkat/L, multiply by 0.0167); and lactate dehydrogenase levels, 454 IU/L (to convert to µkat/L, multiply by 0.0167). Skin biopsy from the abdomen was performed for histopathologic examination (Figure 1B). ### OUTPUT:
JAMA_FINAL14
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 51-year-old woman presented with a 2-year history of progressive memory loss and left limb numbness. She had been treated for cerebral infarction; however, the symptoms worsened. Medical history was unremarkable. She graduated from high school and worked as a driver. Smoking history and alcohol misuse were denied. One of her parents died in their late 60s with cognitive decline. On examination, her Mini-Mental State Examination score was 22, and her Montreal Cognitive Assessment score was 11. Cranial nerve tests revealed left-sided central facial palsy and lingual palsy. Pinprick sensation was decreased in the left arm. Results of other neurological or general examinations were unremarkable. The following investigations had normal or negative results: complete blood cell count, urine and stool analysis, liver and kidney function, cardiac enzymes, electrolytes, blood glucose, lipids, coagulation, homocysteine, vitamins, serum tumor markers, infectious panel, lupus panel, vasculitis antibodies (anti–neutrophil cytoplasmic and anti–neutrophil cytoplasmic), and demyelination antibodies (aquaporin 4 and myelin oligodendrocyte glycoprotein). Seventy-two–hour electrocardiography detected no atrial fibrillation. Right-side heart contrast echocardiography found no right-to-left shunts on Valsalva maneuvers. Results of cerebrospinal fluid analysis were unremarkable. There were no oligoclonal bands. Enhanced cerebrospinal magnetic resonance imaging (MRI) showed diffuse subcortical white matter hyperintensities and corpus callosum atrophy. Diffusion-weighted imaging revealed multifocal restricted diffusion in the corpus callosum with corresponding low apparent diffusion coefficient values (Figure, A and B). Enhanced cerebrospinal MRI showed diffuse subcortical white matter hyperintensities and corpus callosum atrophy (Figure, C). Magnetic resonance angiography showed no atherosclerosis or stenosis. ### OUTPUT:
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
['Genetics and Genomics', 'Neurogenetics', 'Neurology', 'Radiology', 'Neuroimaging']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 51-year-old man presented with a 2-year history of progressive memory loss and left limb numbness. He had been treated for cerebral infarction; however, the symptoms worsened. Medical history was unremarkable. He graduated from high school and worked as a driver. Smoking history and alcohol misuse were denied. One of his parents died in their late 60s with cognitive decline. On examination, his Mini-Mental State Examination score was 22, and his Montreal Cognitive Assessment score was 11. Cranial nerve tests revealed left-sided central facial palsy and lingual palsy. Pinprick sensation was decreased in the left arm. Results of other neurological or general examinations were unremarkable. The following investigations had normal or negative results: complete blood cell count, urine and stool analysis, liver and kidney function, cardiac enzymes, electrolytes, blood glucose, lipids, coagulation, homocysteine, vitamins, serum tumor markers, infectious panel, lupus panel, vasculitis antibodies (anti–neutrophil cytoplasmic and anti–neutrophil cytoplasmic), and demyelination antibodies (aquaporin 4 and myelin oligodendrocyte glycoprotein). Seventy-two–hour electrocardiography detected no atrial fibrillation. Right-side heart contrast echocardiography found no right-to-left shunts on Valsalva maneuvers. Results of cerebrospinal fluid analysis were unremarkable. There were no oligoclonal bands. Enhanced cerebrospinal magnetic resonance imaging (MRI) showed diffuse subcortical white matter hyperintensities and corpus callosum atrophy. Diffusion-weighted imaging revealed multifocal restricted diffusion in the corpus callosum with corresponding low apparent diffusion coefficient values (Figure, A and B). Enhanced cerebrospinal MRI showed diffuse subcortical white matter hyperintensities and corpus callosum atrophy (Figure, C). Magnetic resonance angiography showed no atherosclerosis or stenosis. ### OUTPUT:
JAMA_FINAL15
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 62-year-old woman presented with painless vision reduction and eye redness in the right eye for a week. The initial best-corrected visual acuity (BCVA) was 4/20 (approximately 20/100), and an irregular superficial corneal ulcer with an epithelial defect size of 3 mm × 5 mm was found in the center of edematous cornea. She received penetrating keratoplasty 4 months later, as the ulcer did not heal with intensive medication. Then, topical tobramycin dexamethasone, topical tacrolimus, and daily oral prednisone, 40 mg, were prescribed, with a gradual taper of prednisone to a maintenance dose of 10 mg. At 5-month postoperative follow-up, some thin snowflakelike matter was found deposited on the iris and in the angle, with rare cell and mild flare in the anterior chamber. She was then diagnosed with uveitis and subsequently prescribed topical prednisone, subconjunctival triamcinolone acetonide, oral prednisone, 40 mg, and daily intravenous ganciclovir, 5 mg/kg. An aqueous sample was obtained for diagnostic polymerase chain reaction, and Epstein-Barr virus (EBV) was detected with a DNA load of 3.12 × 107 cells. Nine months after the keratoplasty, when she presented to the Zhongshan Ophthalmic Center, her BCVA was 2/100 OD (approximately 20/1000 OD), and her intraocular pressure was 19 mm Hg. Diffuse tiny nodules were observed all over the iris, along with more snowflake and severe cataract (Figure 1A). The fundus could not be seen. B-ultrasonography showed a dense opacity in the anterior vitreous body (Figure 1B). ### OUTPUT:
Ocular polymorphic posttransplant lymphoproliferative disorders in the left eye
['Cornea', 'Infectious Diseases', 'Intraocular Tumors', 'Oncology', 'Ophthalmology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 62-year-old man presented with painless vision reduction and eye redness in the right eye for a week. The initial best-corrected visual acuity (BCVA) was 4/20 (approximately 20/100), and an irregular superficial corneal ulcer with an epithelial defect size of 3 mm × 5 mm was found in the center of edematous cornea. He received penetrating keratoplasty 4 months later, as the ulcer did not heal with intensive medication. Then, topical tobramycin dexamethasone, topical tacrolimus, and daily oral prednisone, 40 mg, were prescribed, with a gradual taper of prednisone to a maintenance dose of 10 mg. At 5-month postoperative follow-up, some thin snowflakelike matter was found deposited on the iris and in the angle, with rare cell and mild flare in the anterior chamber. He was then diagnosed with uveitis and subsequently prescribed topical prednisone, subconjunctival triamcinolone acetonide, oral prednisone, 40 mg, and daily intravenous ganciclovir, 5 mg/kg. An aqueous sample was obtained for diagnostic polymerase chain reaction, and Epstein-Barr virus (EBV) was detected with a DNA load of 3.12 × 107 cells. Nine months after the keratoplasty, when he presented to the Zhongshan Ophthalmic Center, his BCVA was 2/100 OD (approximately 20/1000 OD), and his intraocular pressure was 19 mm Hg. Diffuse tiny nodules were observed all over the iris, along with more snowflake and severe cataract (Figure 1A). The fundus could not be seen. B-ultrasonography showed a dense opacity in the anterior vitreous body (Figure 1B). ### OUTPUT:
JAMA_FINAL16
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A full-term girl was born with multiple areas of erythema, vesicles, and bullae on the face, trunk, and extremities. Her vital signs, including temperature, respiration, and heart rate, were within normal ranges. One month later, she returned due to skin eruptions that continued to wax and wane. Physical examination revealed multiple round or irregularly shaped erythematous macules and slightly scaly plaques of various sizes on the face, trunk, and extremities. Bullous and vesicular lesions were observed on the thighs, with scattered facial erosions. Mucous membranes were not found to be affected. She was born to healthy, nonconsanguineous parents. Growth and development were normal for her age and sex. The patient’s family medical history was unremarkable. A skin-punch biopsy and direct immunofluorescence (DIF) assays taken from 1 of the erythematous scaly plaques were performed for further analysis. At the 3-year follow-up, it was found that the vesicles and bullae began to decrease in number when she was 6 months old but intermittently returned after 1 year of age. The number of annular hyperkeratotic plaques had increased (Figure 1A). Thickened, brown, corrugated plaques developed over the neck, armpits, wrists, and ankles, along with palmoplantar hyperkeratosis. ### OUTPUT:
Annular epidermolytic ichthyosis
['Dermatology', 'Pediatrics', 'Neonatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A full-term boy was born with multiple areas of erythema, vesicles, and bullae on the face, trunk, and extremities. His vital signs, including temperature, respiration, and heart rate, were within normal ranges. One month later, he returned due to skin eruptions that continued to wax and wane. Physical examination revealed multiple round or irregularly shaped erythematous macules and slightly scaly plaques of various sizes on the face, trunk, and extremities. Bullous and vesicular lesions were observed on the thighs, with scattered facial erosions. Mucous membranes were not found to be affected. He was born to healthy, nonconsanguineous parents. Growth and development were normal for his age and sex. The patient’s family medical history was unremarkable. A skin-punch biopsy and direct immunofluorescence (DIF) assays taken from 1 of the erythematous scaly plaques were performed for further analysis. At the 3-year follow-up, it was found that the vesicles and bullae began to decrease in number when he was 6 months old but intermittently returned after 1 year of age. The number of annular hyperkeratotic plaques had increased (Figure 1A). Thickened, brown, corrugated plaques developed over the neck, armpits, wrists, and ankles, along with palmoplantar hyperkeratosis. ### OUTPUT:
JAMA_FINAL17
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 65-year-old man presented to an outpatient department with a 2-year history of left nasal obstruction. He had a history of hypertension and was taking oral medication (amlodipine [5 mg]/valsartan [80 mg] and indapamide [1.5 mg] once daily) but had poorly controlled systolic blood pressure ranging from 130 to 160 mm Hg. No associated trauma or surgical history was reported. Physical examination revealed a large tumor originating from the olfactory groove in the left nasal cavity, with feeding vessels pushing the middle turbinate outward. Magnetic resonance imaging revealed a well-defined and strongly enhancing mass in the left nasal cavity, with obstructive rhinosinusitis in the frontal and ethmoid sinuses (Figure 1A). During surgical exploration, the tumor abutted the superior end of the nasal septum near the cribriform plate. Tumor excision was completed with a surgical margin of at least 5 mm, with the perichondrium of the nasal septum as the deep margin. The feeding vessels of the tumors were cauterized during the resection. Gross examination revealed a 4.8 × 3.0 × 1.8-cm whitish to pink-tan mass lesion (Figure 1B). Histopathological examination revealed sheetlike proliferation of monomorphic ovoid to spindle tumor cells containing ectatic vascular spaces. In addition, immunohistochemical staining showed positive staining for smooth-muscle actin, cyclin D1, and nuclear expression of β-catenin and negative staining for epithelial membrane antigen, cytokeratin, and CD34. ### OUTPUT:
Glomangiopericytoma
['Otolaryngology', 'Rhinology and Sinus Disease']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 65-year-old woman presented to an outpatient department with a 2-year history of left nasal obstruction. She had a history of hypertension and was taking oral medication (amlodipine [5 mg]/valsartan [80 mg] and indapamide [1.5 mg] once daily) but had poorly controlled systolic blood pressure ranging from 130 to 160 mm Hg. No associated trauma or surgical history was reported. Physical examination revealed a large tumor originating from the olfactory groove in the left nasal cavity, with feeding vessels pushing the middle turbinate outward. Magnetic resonance imaging revealed a well-defined and strongly enhancing mass in the left nasal cavity, with obstructive rhinosinusitis in the frontal and ethmoid sinuses (Figure 1A). During surgical exploration, the tumor abutted the superior end of the nasal septum near the cribriform plate. Tumor excision was completed with a surgical margin of at least 5 mm, with the perichondrium of the nasal septum as the deep margin. The feeding vessels of the tumors were cauterized during the resection. Gross examination revealed a 4.8 × 3.0 × 1.8-cm whitish to pink-tan mass lesion (Figure 1B). Histopathological examination revealed sheetlike proliferation of monomorphic ovoid to spindle tumor cells containing ectatic vascular spaces. In addition, immunohistochemical staining showed positive staining for smooth-muscle actin, cyclin D1, and nuclear expression of β-catenin and negative staining for epithelial membrane antigen, cytokeratin, and CD34. ### OUTPUT:
JAMA_FINAL18
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A patient in his mid-60s with a history of interstitial pulmonary fibrosis underwent bilateral orthotopic lung transplant (BOLT) 6 months earlier. He was hospitalized for sepsis from pneumonia complicated by acute transplant rejection, without any cardiac symptoms. Coronary angiography prior to BOLT showed no evidence of coronary artery disease. His only cardiac history was tricuspid valve repair at the time of BOLT. His baseline electrocardiogram (ECG) is shown in Figure 1A. He progressed to having severe acute respiratory distress syndrome requiring intubation. As he continued to worsen, the decision was made to paralyze him a few hours later. Changes on telemetry were noted. Shortly thereafter, 12-lead ECG showed the changes in Figure 1B. ### OUTPUT:
Apical pulsation caused by paralysis of the intercostal muscles
['Cardiology', 'Pulmonary Medicine', 'Surgery', 'Transplantation', 'Critical Care Medicine']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A patient in her mid-60s with a history of interstitial pulmonary fibrosis underwent bilateral orthotopic lung transplant (BOLT) 6 months earlier. She was hospitalized for sepsis from pneumonia complicated by acute transplant rejection, without any cardiac symptoms. Coronary angiography prior to BOLT showed no evidence of coronary artery disease. Her only cardiac history was tricuspid valve repair at the time of BOLT. Her baseline electrocardiogram (ECG) is shown in Figure 1A. She progressed to having severe acute respiratory distress syndrome requiring intubation. As she continued to worsen, the decision was made to paralyze her a few hours later. Changes on telemetry were noted. Shortly thereafter, 12-lead ECG showed the changes in Figure 1B. ### OUTPUT:
JAMA_FINAL19
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 52-year-old presented to the rheumatology clinic with 3 weeks of pain and duskiness of the fingertips bilaterally. The patient reported no dyspnea, cough, nasal discharge, diarrhea weight loss, or fevers. She had no history of rheumatologic disease or Raynaud disease, did not smoke cigarettes, take daily medications, ingest raw meat, or report recent travel. On presentation, her temperature was 98.2 °F (36.8 °C); blood pressure, 132/70 mm Hg; heart rate, 86/min; and oxygen saturation, 99% on room air. Findings on the physical examination were normal, other than her fingertips, which were cold and cyanotic with small ulcerations on the second and third fingertips (Figure). White blood cell count was 25.1 × 109/L (reference range, 3.8-9.8 × 109/L) and manual differential revealed 74.5% eosinophils (absolute eosinophil count, 18.7 × 109/L) and no blasts. Hemoglobin level and platelet count were normal. D-dimer level was 1.5 μg/mL (8.21 nmol/L) (reference range, 0.0-0.99 μg/mL [0.0-5.42 nmol/L]). Test results were negative for antinuclear antibodies, antiphospholipid antibodies, antineutrophil cytoplasmic antibodies against proteinase 3 and myeloperoxidase, and HIV. Results of computed tomography of the neck, chest, abdomen, and pelvis, and of flexible nasopharyngoscopy, were normal. ### OUTPUT:
Idiopathic hypereosinophilic syndrome with peripheral arterial thrombosis.
['Rheumatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 52-year-old presented to the rheumatology clinic with 3 weeks of pain and duskiness of the fingertips bilaterally. The patient reported no dyspnea, cough, nasal discharge, diarrhea weight loss, or fevers. He had no history of rheumatologic disease or Raynaud disease, did not smoke cigarettes, take daily medications, ingest raw meat, or report recent travel. On presentation, his temperature was 98.2 °F (36.8 °C); blood pressure, 132/70 mm Hg; heart rate, 86/min; and oxygen saturation, 99% on room air. Findings on the physical examination were normal, other than his fingertips, which were cold and cyanotic with small ulcerations on the second and third fingertips (Figure). White blood cell count was 25.1 × 109/L (reference range, 3.8-9.8 × 109/L) and manual differential revealed 74.5% eosinophils (absolute eosinophil count, 18.7 × 109/L) and no blasts. Hemoglobin level and platelet count were normal. D-dimer level was 1.5 μg/mL (8.21 nmol/L) (reference range, 0.0-0.99 μg/mL [0.0-5.42 nmol/L]). Test results were negative for antinuclear antibodies, antiphospholipid antibodies, antineutrophil cytoplasmic antibodies against proteinase 3 and myeloperoxidase, and HIV. Results of computed tomography of the neck, chest, abdomen, and pelvis, and of flexible nasopharyngoscopy, were normal. ### OUTPUT:
JAMA_FINAL20
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 20s presented with a firm, mobile, painful, and fast-growing subcutaneous nodule in the glabella (Figure 1). Ultrasonography performed in B mode with a high-frequency (6-18 MHz) linear transducer revealed a hypoechoic lesion with well-defined borders in the hypodermis. After 2 months, the nodule had increased and seemed to be adhered to deep layers. A computed tomography scan was performed, which showed a 0.8 × 1.5 × 1.5-cm ovoid subcutaneous lesion with well-defined borders located in the glabella. The lesion was not affecting the epidermis and reached the muscular layer in depth without eroding bone structures. Given these findings, the lesion was excised. ### OUTPUT:
Nodular fasciitis
['Dermatology', 'Facial Plastic Surgery']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 20s presented with a firm, mobile, painful, and fast-growing subcutaneous nodule in the glabella (Figure 1). Ultrasonography performed in B mode with a high-frequency (6-18 MHz) linear transducer revealed a hypoechoic lesion with well-defined borders in the hypodermis. After 2 months, the nodule had increased and seemed to be adhered to deep layers. A computed tomography scan was performed, which showed a 0.8 × 1.5 × 1.5-cm ovoid subcutaneous lesion with well-defined borders located in the glabella. The lesion was not affecting the epidermis and reached the muscular layer in depth without eroding bone structures. Given these findings, the lesion was excised. ### OUTPUT:
JAMA_FINAL21
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 31-year-old woman was evaluated for generalized dystonia, dysarthria, dysphagia, severe scoliosis, and motor development disorder that began in her childhood. Born by cesarean delivery to nonconsanguineous parents, she developed difficulties with head control, standing, and feeding at age 10 months. Subsequently, she faced progressive motor challenges (walking, speech, and swallow); contractures in her fingers, toes, wrists, and knees; and scoliosis. In adolescence, she experienced progressive stiffness, episodes of painful spasms and oculomotor crisis, and galactorrhea unrelated to childbirth in adulthood. Her symptoms worsened with age and progressed to her using a wheelchair, having difficulty in speech, and not having access to education. She had a younger brother with similar symptoms who passed away at age 20 years of unknown causes. Upon presentation at age 31 years, she was admitted to our center for further evaluation. She had thin limbs and was of standard height. The neurological and psychological examinations revealed scoliosis, contractures in her fingers and toes, carpal inversion, dysarthria, dysphagia, hypertonia, decreased tendon reflexes, absence of Babinski sign (Figure, A and B), and no psychiatric problems. Blood test results indicated hyperprolactinemia (prolactin level of 47.40 ng/mL; to convert to micrograms per liter, multiply by 1). An electroencephalogram revealed atypical spike-slow wave synchronization in specific brain regions during sleep. Brain magnetic resonance imaging (MRI) revealed significant global atrophy particularly in her anterior temporal, lateral, and frontal regions (Figure, C). Levodopa treatment was initiated but quickly resulted in drug-induced hyperkinesia (Video). ### OUTPUT:
Tyrosine hydroxylase deficiency
['Genetics and Genomics', 'Neurogenetics', 'Neurology', 'Neuromuscular Diseases', 'Radiology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 31-year-old man was evaluated for generalized dystonia, dysarthria, dysphagia, severe scoliosis, and motor development disorder that began in his childhood. Born by cesarean delivery to nonconsanguineous parents, he developed difficulties with head control, standing, and feeding at age 10 months. Subsequently, he faced progressive motor challenges (walking, speech, and swallow); contractures in his fingers, toes, wrists, and knees; and scoliosis. In adolescence, he experienced progressive stiffness, episodes of painful spasms and oculomotor crisis, and galactorrhea unrelated to childbirth in adulthood. His symptoms worsened with age and progressed to his using a wheelchair, having difficulty in speech, and not having access to education. He had a younger brother with similar symptoms who passed away at age 20 years of unknown causes. Upon presentation at age 31 years, he was admitted to our center for further evaluation. He had thin limbs and was of standard height. The neurological and psychological examinations revealed scoliosis, contractures in his fingers and toes, carpal inversion, dysarthria, dysphagia, hypertonia, decreased tendon reflexes, absence of Babinski sign (Figure, A and B), and no psychiatric problems. Blood test results indicated hyperprolactinemia (prolactin level of 47.40 ng/mL; to convert to micrograms per liter, multiply by 1). An electroencephalogram revealed atypical spike-slow wave synchronization in specific brain regions during sleep. Brain magnetic resonance imaging (MRI) revealed significant global atrophy particularly in his anterior temporal, lateral, and frontal regions (Figure, C). Levodopa treatment was initiated but quickly resulted in drug-induced hyperkinesia (Video). ### OUTPUT:
JAMA_FINAL22
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 84-year-old man with dementia presented to a dermatology clinic with a 1-week history of multiple dark violaceous nodules on his right leg and foot. The patient had no fevers, night sweats, fatigue, weight loss, or leg pain or swelling, and no recent history of trauma. Nine months prior to presentation, he had been diagnosed with bullous pemphigoid, which was initially treated with oral prednisolone (40 mg daily for 1 week). His prednisolone dose was reduced by 10 mg per day each week to 10 mg daily, which he had been taking for 8 months. On presentation, his temperature was 36.7 °C (98.1 °F); blood pressure, 120/85 mm Hg; and heart rate, 92/min. Physical examination revealed multiple round, dark brown to violaceous-colored firm nodules on his right leg and 2 nodular masses with hemorrhagic crusts on his right foot (Figure 1). The right dorsalis pedis and popliteal artery pulses were normal to palpation. Laboratory testing revealed a normal complete blood cell count and normal creatinine and liver function test results; results of HIV antibody testing were negative. ### OUTPUT:
Iatrogenic Kaposi sarcoma
['Pathology and Laboratory Medicine', 'Infectious Diseases', 'Dermatology', 'Oncology', 'Sarcomas']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 84-year-old woman with dementia presented to a dermatology clinic with a 1-week history of multiple dark violaceous nodules on her right leg and foot. The patient had no fevers, night sweats, fatigue, weight loss, or leg pain or swelling, and no recent history of trauma. Nine months prior to presentation, she had been diagnosed with bullous pemphigoid, which was initially treated with oral prednisolone (40 mg daily for 1 week). Her prednisolone dose was reduced by 10 mg per day each week to 10 mg daily, which she had been taking for 8 months. On presentation, her temperature was 36.7 °C (98.1 °F); blood pressure, 120/85 mm Hg; and heart rate, 92/min. Physical examination revealed multiple round, dark brown to violaceous-colored firm nodules on her right leg and 2 nodular masses with hemorrhagic crusts on her right foot (Figure 1). The right dorsalis pedis and popliteal artery pulses were normal to palpation. Laboratory testing revealed a normal complete blood cell count and normal creatinine and liver function test results; results of HIV antibody testing were negative. ### OUTPUT:
JAMA_FINAL23
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 50s underwent clinical assessment for a 4-month history of recurrent palpitations, fatigue, and progressive exertion dyspnea. He had no history of cardiac disease, and there was no family history of heart disease or sudden death. Physical examination revealed an irregular pulse and a systolic murmur at the heart apex. Holter monitoring and 12-lead electrocardiogram (ECG) recordings documented irregular narrow-QRS tachycardia in an incessant, repetitive fashion with heart rates up to 180 beats per minute and occasional short runs of wide-QRS tachycardia. Transthoracic echocardiogram showed a dilated and diffusely hypokinetic left ventricle (ejection fraction, 30%) associated with moderate to severe functional mitral regurgitation. Blood test results were within normal limits, including thyroid function, C-reactive protein, and myocardial enzymes. The patient was hospitalized, and medical therapy was initiated, including ACE inhibitors, mineralocorticoid receptor antagonists, β-blockers, and diuretics. Coronary angiography revealed no significant coronary stenoses. A representative 12-lead ECG of the arrhythmia is shown in Figure 1. ### OUTPUT:
Dual atrioventricular nodal nonreentrant tachycardia
['Cardiology', 'Rhythm Disorders', 'Heart Failure']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 50s underwent clinical assessment for a 4-month history of recurrent palpitations, fatigue, and progressive exertion dyspnea. She had no history of cardiac disease, and there was no family history of heart disease or sudden death. Physical examination revealed an irregular pulse and a systolic murmur at the heart apex. Holter monitoring and 12-lead electrocardiogram (ECG) recordings documented irregular narrow-QRS tachycardia in an incessant, repetitive fashion with heart rates up to 180 beats per minute and occasional short runs of wide-QRS tachycardia. Transthoracic echocardiogram showed a dilated and diffusely hypokinetic left ventricle (ejection fraction, 30%) associated with moderate to severe functional mitral regurgitation. Blood test results were within normal limits, including thyroid function, C-reactive protein, and myocardial enzymes. The patient was hospitalized, and medical therapy was initiated, including ACE inhibitors, mineralocorticoid receptor antagonists, β-blockers, and diuretics. Coronary angiography revealed no significant coronary stenoses. A representative 12-lead ECG of the arrhythmia is shown in Figure 1. ### OUTPUT:
JAMA_FINAL24
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 50-year-old man with end-stage kidney disease receiving hemodialysis was admitted to the hospital for treatment of calciphylaxis and foot cellulitis. His home medications included sevelamer and hydrocodone-acetaminophen (10 mg/325 mg) every 8 hours as needed, which was increased to every 4 hours as needed in the hospital. Hydromorphone (0.5 mg intravenously as needed) was added for breakthrough pain. He was prescribed chewable lanthanum tablets (500 mg 3 times daily) for treatment of a blood phosphate level of 8.1 mg/dL (reference, 2.5-4.5 mg/dL). On hospital day 7, the patient developed intermittent apneic episodes, during which his oxygen saturation was 80% on room air; heart rate, 86/min; and blood pressure, 106/45 mm Hg. Physical examination revealed bilateral rhonchi and responsiveness to verbal commands only with deep painful stimulus. A chest radiograph showed 4 radio-opaque coin-shaped opacities in the stomach (Figure). After administration of oxygen at 2 L/min by nasal cannula and a naloxone infusion, his oxygen saturation increased to 98% and his mental status improved. The patient reported no foreign body ingestion. ### OUTPUT:
Accidental ingestion of whole lanthanum tablets
['Acid Base, Electrolytes, Fluids', 'Emergency Medicine', 'Gastroenterology', 'Surgery', 'Radiology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 50-year-old woman with end-stage kidney disease receiving hemodialysis was admitted to the hospital for treatment of calciphylaxis and foot cellulitis. Her home medications included sevelamer and hydrocodone-acetaminophen (10 mg/325 mg) every 8 hours as needed, which was increased to every 4 hours as needed in the hospital. Hydromorphone (0.5 mg intravenously as needed) was added for breakthrough pain. She was prescribed chewable lanthanum tablets (500 mg 3 times daily) for treatment of a blood phosphate level of 8.1 mg/dL (reference, 2.5-4.5 mg/dL). On hospital day 7, the patient developed intermittent apneic episodes, during which her oxygen saturation was 80% on room air; heart rate, 86/min; and blood pressure, 106/45 mm Hg. Physical examination revealed bilateral rhonchi and responsiveness to verbal commands only with deep painful stimulus. A chest radiograph showed 4 radio-opaque coin-shaped opacities in the stomach (Figure). After administration of oxygen at 2 L/min by nasal cannula and a naloxone infusion, her oxygen saturation increased to 98% and her mental status improved. The patient reported no foreign body ingestion. ### OUTPUT:
JAMA_FINAL25
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A healthy patient in their teens presented to the emergency department with high-grade fever (38.7 °C), neck pain, and a foreign body sensation in the throat after eating chicken 3 days prior. Laboratory investigations demonstrated an elevated leukocyte count (22 500/µL; to convert to ×109/L, multiply by 0.001). Lateral soft tissue radiography showed a radio-opaque foreign body at the level of C6. Computed tomography (CT) scan confirmed a 2-cm radio-opaque osseous foreign body at the level of the cricopharyngeus muscle with signs of esophageal perforation, including air leak tracking toward the left lobe of the thyroid gland (Figure, A and B). The patient was brought to the operating room, and the esophageal foreign body was successfully removed. Postoperatively, the patient continued to become febrile despite intravenous antibiotic therapy. A repeated CT scan of the neck and chest was done (Figure, C). ### OUTPUT:
Emphysematous thyroiditis
['Surgery', 'Pain Medicine', 'Pediatrics', 'Adolescent Medicine', 'Endocrinology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A healthy patient in their teens presented to the emergency department with high-grade fever (38.7 °C), neck pain, and a foreign body sensation in the throat after eating chicken 3 days prior. Laboratory investigations demonstrated an elevated leukocyte count (22 500/µL; to convert to ×109/L, multiply by 0.001). Lateral soft tissue radiography showed a radio-opaque foreign body at the level of C6. Computed tomography (CT) scan confirmed a 2-cm radio-opaque osseous foreign body at the level of the cricopharyngeus muscle with signs of esophageal perforation, including air leak tracking toward the left lobe of the thyroid gland (Figure, A and B). The patient was brought to the operating room, and the esophageal foreign body was successfully removed. Postoperatively, the patient continued to become febrile despite intravenous antibiotic therapy. A repeated CT scan of the neck and chest was done (Figure, C). ### OUTPUT:
JAMA_FINAL26
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 68-year-old man presented with progressive right-sided facial numbness and weakness, vision changes, and headaches. His symptoms began 5 years earlier with right temple numbness, which expanded to include the entire right face and mouth. He then developed progressive right facial weakness with a droop, slurred speech, and eyelid ptosis. Finally, binocular vertical and horizontal diplopia and periorbital headaches began. Trials of gabapentin and steroids provided no relief. His history was significant for a left cheek melanoma completely excised years prior, numerous cutaneous squamous and basal cell carcinomas of the bilateral head and neck removed without issue, type 2 diabetes, and hyperlipidemia. His medications included metformin and simvastatin; he had no history of smoking or drinking. On examination, he had right-sided ptosis and severe right facial weakness in a lower motor neuron pattern with temporal wasting. The right pupil was fixed and dilated. There was no afferent pupillary defect. The left pupil was appropriately sized and reactive. His right-sided vision was impaired (20/250) with blurriness. Vertical and horizontal binocular diplopia was present. Right extraocular movements were significantly limited in all directions and painful, and right-sided facial sensation was diminished to pinprick in all cranial nerve (CN) V distributions. His speech was slightly slurred. Left-sided extraocular movements were intact. His left facial sensation was intact to pinprick, and his strength was without deficit. There were no other neurological abnormalities. Initial magnetic resonance images (MRIs) were unremarkable. A biopsy of CN VII was nondiagnostic. Hemoglobin A1c was 6.8%. Tests for infection and autoimmune disease had negative results. Cerebrospinal fluid (CSF) studies showed mildly elevated protein values. Figure 1 shows the MRI at presentation. ### OUTPUT:
Perineural spread of cutaneous malignancy
['Facial Nerve', 'Facial Plastic Surgery', 'Head and Neck Cancer', 'Neurology', 'Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 68-year-old woman presented with progressive right-sided facial numbness and weakness, vision changes, and headaches. Her symptoms began 5 years earlier with right temple numbness, which expanded to include the entire right face and mouth. She then developed progressive right facial weakness with a droop, slurred speech, and eyelid ptosis. Finally, binocular vertical and horizontal diplopia and periorbital headaches began. Trials of gabapentin and steroids provided no relief. Her history was significant for a left cheek melanoma completely excised years prior, numerous cutaneous squamous and basal cell carcinomas of the bilateral head and neck removed without issue, type 2 diabetes, and hyperlipidemia. Her medications included metformin and simvastatin; she had no history of smoking or drinking. On examination, she had right-sided ptosis and severe right facial weakness in a lower motor neuron pattern with temporal wasting. The right pupil was fixed and dilated. There was no afferent pupillary defect. The left pupil was appropriately sized and reactive. Her right-sided vision was impaired (20/250) with blurriness. Vertical and horizontal binocular diplopia was present. Right extraocular movements were significantly limited in all directions and painful, and right-sided facial sensation was diminished to pinprick in all cranial nerve (CN) V distributions. Her speech was slightly slurred. Left-sided extraocular movements were intact. Her left facial sensation was intact to pinprick, and her strength was without deficit. There were no other neurological abnormalities. Initial magnetic resonance images (MRIs) were unremarkable. A biopsy of CN VII was nondiagnostic. Hemoglobin A1c was 6.8%. Tests for infection and autoimmune disease had negative results. Cerebrospinal fluid (CSF) studies showed mildly elevated protein values. Figure 1 shows the MRI at presentation. ### OUTPUT:
JAMA_FINAL27
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 31-year-old man presented with left cervical and left inguinal masses. He reported intermittent itching and night sweats for 2 years. He denied fever, weight loss, shortness of breath, rashes, diarrhea, and neurological symptoms. On a preemployment evaluation, the patient was told he had a high white blood cell count 2 years ago. On examination, there was left cervical and inguinal lymphadenopathy and no other organomegaly. Complete blood cell count and peripheral blood smear showed marked leukocytosis, with a white blood cell count of 22 340/μL, an absolute neutrophil count of 5360/μL, and 55% eosinophils with an absolute eosinophil count of 12 290/μL (to convert all to cells ×109/L, multiply by 0.001). Vitamin B12 was markedly elevated at more than 4000 pg/mL (to convert to pmol/L, multiply by 0.7378). The erythrocyte sedimentation rate was 5 mm/h. Lactate dehydrogenase was 180 U/L, and alkaline phosphatase was 81 U/L (to convert both to μkat/L, multiply by 0.0167). Evaluations for HIV and hepatitis B and C were all negative. Serum creatinine was 0.76 mg/dL (to convert to μmol/L, multiply by 88.4); alanine aminotransferase and aspartate aminotransferase were 11 U/L and 9.9 U/L, respectively (to convert to μkat/L, multiply by 0.0167); and total bilirubin was 0.35 mg/dL (to convert to μmol/L, multiply by 17.104). Bone marrow biopsy showed hypercellular marrow (cellularity of 100%), myeloid hyperplasia, increased eosinophils with some dysplasia, and a blast count of 2%. Positron emission tomographic–computed tomographic scan showed a left upper cervical lymph node of 2.6 cm and a left inguinal lymph node of 3.1 × 2.3 cm with an standardized uptake value max of 5.7 (Figure, A). Left inguinal lymph node biopsy showed partial involvement by atypical cells with high proliferation index (Ki-67 >95%) that were positive for CD3, CD4, CD8, BCL2, and TDT, suggestive of T-cell lymphoblastic lymphoma/leukemia (Figure, B). ### OUTPUT:
Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions
['Allergy and Clinical Immunology', 'Dermatology', 'Oncology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 31-year-old woman presented with left cervical and left inguinal masses. She reported intermittent itching and night sweats for 2 years. She denied fever, weight loss, shortness of breath, rashes, diarrhea, and neurological symptoms. On a preemployment evaluation, the patient was told she had a high white blood cell count 2 years ago. On examination, there was left cervical and inguinal lymphadenopathy and no other organomegaly. Complete blood cell count and peripheral blood smear showed marked leukocytosis, with a white blood cell count of 22 340/μL, an absolute neutrophil count of 5360/μL, and 55% eosinophils with an absolute eosinophil count of 12 290/μL (to convert all to cells ×109/L, multiply by 0.001). Vitamin B12 was markedly elevated at more than 4000 pg/mL (to convert to pmol/L, multiply by 0.7378). The erythrocyte sedimentation rate was 5 mm/h. Lactate dehydrogenase was 180 U/L, and alkaline phosphatase was 81 U/L (to convert both to μkat/L, multiply by 0.0167). Evaluations for HIV and hepatitis B and C were all negative. Serum creatinine was 0.76 mg/dL (to convert to μmol/L, multiply by 88.4); alanine aminotransferase and aspartate aminotransferase were 11 U/L and 9.9 U/L, respectively (to convert to μkat/L, multiply by 0.0167); and total bilirubin was 0.35 mg/dL (to convert to μmol/L, multiply by 17.104). Bone marrow biopsy showed hypercellular marrow (cellularity of 100%), myeloid hyperplasia, increased eosinophils with some dysplasia, and a blast count of 2%. Positron emission tomographic–computed tomographic scan showed a left upper cervical lymph node of 2.6 cm and a left inguinal lymph node of 3.1 × 2.3 cm with an standardized uptake value max of 5.7 (Figure, A). Left inguinal lymph node biopsy showed partial involvement by atypical cells with high proliferation index (Ki-67 >95%) that were positive for CD3, CD4, CD8, BCL2, and TDT, suggestive of T-cell lymphoblastic lymphoma/leukemia (Figure, B). ### OUTPUT:
JAMA_FINAL28
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 80-year-old man with stage II bladder carcinoma (T2NXM0) and atrial fibrillation treated with apixaban presented to the emergency department with 1 week of fatigue and 2 days of dyspnea on exertion. One week prior to presentation, he received a fourth cycle of carboplatin/gemcitabine for bladder carcinoma with 6 mg of pegylated granulocyte colony-stimulating factor (G-CSF). The patient reported no anorexia, fever, melena, hematemesis, hematuria, cough, orthopnea, or peripheral edema. His vital signs were normal except for a heart rate of 103/min. His white blood cell count was 22 × 103/μL (reference, 4-11 × 103/μL), increased from 4.8 × 103/μL 8 days prior. His manual differential, which was previously normal, showed 18% bands (0%-10%), 2% metamyelocytes, 7% myelocytes, 7% promyelocytes, and 6% blasts. His hemoglobin level was 5.2 g/dL (reference, 13-17 g/dL), decreased from 7.4 g/dL, and platelets were 25 × 103/μL (reference, 150-420 × 103/μL), decreased from 268 × 103/μL 8 days prior. Ferritin was 1423 ng/mL (reference, 300-400 ng/mL). Mean corpuscular volume, prothrombin time, international normalized ratio, partial thromboplastin time, fibrinogen, haptoglobin, vitamin B12, and methylmalonic acid values were normal, and results of a direct antiglobulin test were negative. A computed tomography (CT) scan of his abdomen and pelvis was normal. He received 2 units of packed red blood cells and was admitted to the hospital. Flow cytometry identified a small population of CD34+/CD117+ cells (Figure). ### OUTPUT:
Granulocyte colony-stimulating factor (G-CSF)–induced increase in peripheral blasts
['Hematology', 'Oncology', 'Pathology and Laboratory Medicine', 'Urology', 'Urologic Cancer']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 80-year-old woman with stage II bladder carcinoma (T2NXM0) and atrial fibrillation treated with apixaban presented to the emergency department with 1 week of fatigue and 2 days of dyspnea on exertion. One week prior to presentation, she received a fourth cycle of carboplatin/gemcitabine for bladder carcinoma with 6 mg of pegylated granulocyte colony-stimulating factor (G-CSF). The patient reported no anorexia, fever, melena, hematemesis, hematuria, cough, orthopnea, or peripheral edema. Her vital signs were normal except for a heart rate of 103/min. Her white blood cell count was 22 × 103/μL (reference, 4-11 × 103/μL), increased from 4.8 × 103/μL 8 days prior. Her manual differential, which was previously normal, showed 18% bands (0%-10%), 2% metamyelocytes, 7% myelocytes, 7% promyelocytes, and 6% blasts. Her hemoglobin level was 5.2 g/dL (reference, 13-17 g/dL), decreased from 7.4 g/dL, and platelets were 25 × 103/μL (reference, 150-420 × 103/μL), decreased from 268 × 103/μL 8 days prior. Ferritin was 1423 ng/mL (reference, 300-400 ng/mL). Mean corpuscular volume, prothrombin time, international normalized ratio, partial thromboplastin time, fibrinogen, haptoglobin, vitamin B12, and methylmalonic acid values were normal, and results of a direct antiglobulin test were negative. A computed tomography (CT) scan of her abdomen and pelvis was normal. She received 2 units of packed red blood cells and was admitted to the hospital. Flow cytometry identified a small population of CD34+/CD117+ cells (Figure). ### OUTPUT:
JAMA_FINAL29
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 81-year-old White woman noted decreased vision in her left eye for 6 months. She was referred to the Ocular Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania, for suspected choroidal melanoma. She disclosed a history of macular degeneration in both eyes and retinal detachment in the left eye that was treated 35 years previously. Medical history revealed cutaneous basal cell carcinoma and squamous cell carcinoma, both treated surgically. On examination, visual acuity was 20/50 OD and 20/400 OS. External examination showed posterior-chamber intraocular lenses in both eyes and conjunctival scarring in the left eye from circumferential scleral buckle surgery with no visible extraocular tumor. Fundus evaluation showed macular drusen in the right eye and a pale optic disc with geographic macular atrophy in the left eye, explaining her visual acuity of 20/400 OS. In addition, a shallow circumferential buckle effect and an inferotemporal mass measuring 15.0 × 10.0 mm in basal dimension and 9.1 mm in thickness (Figure, A) were seen in the left eye. The mass appeared elevated, amelanotic with overlying retinal vasculature, and with chorioretinal atrophy. No retinal detachment or breaks were seen. By ultrasonography the mass was echolucent (Figure, A inset). Magnetic resonance imaging (MRI) revealed a T1, T2-hypointense shallow circumferential band in the left eye. In addition, there was an inferotemporal nodular mass in the left eye showing T1 (gadolinium) hypointense, T2-hyperintense features, underlying the encircling buckle, and with adjacent subtle delineation. There was no enhancement with gadolinium (Figure, B). ### OUTPUT:
Expanded hydrogel scleral sponge
['Health Care Safety', 'Retinal Disorders', 'Ophthalmology', 'Macular Diseases']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 81-year-old White man noted decreased vision in his left eye for 6 months. He was referred to the Ocular Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania, for suspected choroidal melanoma. He disclosed a history of macular degeneration in both eyes and retinal detachment in the left eye that was treated 35 years previously. Medical history revealed cutaneous basal cell carcinoma and squamous cell carcinoma, both treated surgically. On examination, visual acuity was 20/50 OD and 20/400 OS. External examination showed posterior-chamber intraocular lenses in both eyes and conjunctival scarring in the left eye from circumferential scleral buckle surgery with no visible extraocular tumor. Fundus evaluation showed macular drusen in the right eye and a pale optic disc with geographic macular atrophy in the left eye, explaining his visual acuity of 20/400 OS. In addition, a shallow circumferential buckle effect and an inferotemporal mass measuring 15.0 × 10.0 mm in basal dimension and 9.1 mm in thickness (Figure, A) were seen in the left eye. The mass appeared elevated, amelanotic with overlying retinal vasculature, and with chorioretinal atrophy. No retinal detachment or breaks were seen. By ultrasonography the mass was echolucent (Figure, A inset). Magnetic resonance imaging (MRI) revealed a T1, T2-hypointense shallow circumferential band in the left eye. In addition, there was an inferotemporal nodular mass in the left eye showing T1 (gadolinium) hypointense, T2-hyperintense features, underlying the encircling buckle, and with adjacent subtle delineation. There was no enhancement with gadolinium (Figure, B). ### OUTPUT:
JAMA_FINAL30
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 30s presented with progressive, multiple itchy erythematous to violaceous papules and plaques localized to the left shin for more than 10 years (Figure, A and B). On close inspection, milia and a few erosions with partially detached epidermis were identified. There were no abnormalities of the mucous membranes, nails, hair, or teeth. No extracutaneous involvement was observed. ### OUTPUT:
Epidermolysis bullosa pruriginosa (EBP)
['Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 30s presented with progressive, multiple itchy erythematous to violaceous papules and plaques localized to the left shin for more than 10 years (Figure, A and B). On close inspection, milia and a few erosions with partially detached epidermis were identified. There were no abnormalities of the mucous membranes, nails, hair, or teeth. No extracutaneous involvement was observed. ### OUTPUT:
JAMA_FINAL31
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 13-year-old boy with a history of sports-related blunt trauma to the left eye was referred for evaluation of an asymptomatic, pigmented iris lesion in the left eye. On examination, his best-corrected visual acuity was 20/20 OU, and intraocular pressures were normal in both eyes. Results of slitlamp examination of the right eye were unremarkable. Slitlamp examination of the left eye revealed a round, pigmented lesion measuring 3 × 3 mm in basal dimension and with gravitational shifting within the anterior chamber fluid with patient head tilt (Video). There was no corneal guttatae or edema. Anterior segment optical coherence tomography depicted the lesion in the anterior chamber angle abutting the corneal endothelium and resting on the iris stroma with no internal fluid level and no solid component. Ultrasound biomicroscopy confirmed the lesion to be cystic with a thickness of 1.6 mm. Dilated fundus examination revealed normal findings in both eyes. ### OUTPUT:
Free-floating iris pigment epithelium cyst
['Adolescent Medicine', 'Ophthalmology', 'Sports Medicine', 'Pediatrics']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 13-year-old girl with a history of sports-related blunt trauma to the left eye was referred for evaluation of an asymptomatic, pigmented iris lesion in the left eye. On examination, her best-corrected visual acuity was 20/20 OU, and intraocular pressures were normal in both eyes. Results of slitlamp examination of the right eye were unremarkable. Slitlamp examination of the left eye revealed a round, pigmented lesion measuring 3 × 3 mm in basal dimension and with gravitational shifting within the anterior chamber fluid with patient head tilt (Video). There was no corneal guttatae or edema. Anterior segment optical coherence tomography depicted the lesion in the anterior chamber angle abutting the corneal endothelium and resting on the iris stroma with no internal fluid level and no solid component. Ultrasound biomicroscopy confirmed the lesion to be cystic with a thickness of 1.6 mm. Dilated fundus examination revealed normal findings in both eyes. ### OUTPUT:
JAMA_FINAL32
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A female patient in her early 50s presented with multiple (approximately 10) bluish, partially keratotic papules and nodules on the lower legs (Figure, A). Since the age of 24 years, the lesions had been growing very slowly in number and size and had been bleeding occasionally after a trauma. The patient used a wheelchair due to a right-sided hemiparesis and hemianopsia caused by an intracranial hemorrhage. At the age of 4 years, recurrent seizures had led to the diagnosis of cerebral venous malformations. Clinical examination also demonstrated a lipolymphedema of the lower legs that had been attributed to a functional venous insufficiency with insufficient venous pump activity. The patient had been wearing compression stockings for years. The family history was positive for cerebral venous malformations involving the patient’s father and aunt, the father having died of an intracranial hemorrhage in his early 70s. ### OUTPUT:
Familial cerebral cavernous malformations
['Cerebrovascular Disease', 'Dermatology', 'Cutaneous Vascular Malformations', 'Neurology', 'Pediatrics']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A male patient in his early 50s presented with multiple (approximately 10) bluish, partially keratotic papules and nodules on the lower legs (Figure, A). Since the age of 24 years, the lesions had been growing very slowly in number and size and had been bleeding occasionally after a trauma. The patient used a wheelchair due to a right-sided hemiparesis and hemianopsia caused by an intracranial hemorrhage. At the age of 4 years, recurrent seizures had led to the diagnosis of cerebral venous malformations. Clinical examination also demonstrated a lipolymphedema of the lower legs that had been attributed to a functional venous insufficiency with insufficient venous pump activity. The patient had been wearing compression stockings for years. The family history was positive for cerebral venous malformations involving the patient’s father and uncle, the father having died of an intracranial hemorrhage in his early 70s. ### OUTPUT:
JAMA_FINAL33
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 33-year-old man with no prior ocular problems presented to the emergency department in central Florida with a chief complaint of a “pulling and popping” sensation in his left eye that had occurred the previous night. Ophthalmology was consulted to evaluate for a conjunctival foreign body of the left eye. At the time of the examination, his symptoms had resolved; however, he had a photograph from a cellular phone taken during the episode (Figure 1). The photograph shows an irregular, serpiginous extension from beneath the plica semilunaris toward the corneal limbus with localized conjunctival hyperemia. He reported a similar sensation of movement in his left eye that occurred for 1 night about 5 years ago for which he visited an urgent care center where he was diagnosed with allergic conjunctivitis. He also reported recent swelling of the left side of his face with associated numbness and occasional swelling of his left hand, all of which resolved after a few days. He had immigrated from Nigeria 10 years prior, had not returned since, and was working as a traveling nurse. A slitlamp examination did not reveal any conjunctival hyperemia, foreign bodies, or other abnormalities like those shown in the photograph. His uncorrected visual acuity was 20/20, extraocular movements were full and without pain or abnormal sensation, and intraocular pressure was normal. His dilated fundus examination was unremarkable. A comprehensive blood cell count revealed mild elevation in the relative (but not absolute) eosinophil count (6.9% reference; 6.0% of white blood cells). ### OUTPUT:
Loa loa infection
['Emergency Medicine', 'Global Health', 'Infectious Diseases', 'Ophthalmology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 33-year-old woman with no prior ocular problems presented to the emergency department in central Florida with a chief complaint of a “pulling and popping” sensation in her left eye that had occurred the previous night. Ophthalmology was consulted to evaluate for a conjunctival foreign body of the left eye. At the time of the examination, her symptoms had resolved; however, she had a photograph from a cellular phone taken during the episode (Figure 1). The photograph shows an irregular, serpiginous extension from beneath the plica semilunaris toward the corneal limbus with localized conjunctival hyperemia. She reported a similar sensation of movement in her left eye that occurred for 1 night about 5 years ago for which she visited an urgent care center where she was diagnosed with allergic conjunctivitis. She also reported recent swelling of the left side of her face with associated numbness and occasional swelling of her left hand, all of which resolved after a few days. She had immigrated from Nigeria 10 years prior, had not returned since, and was working as a traveling nurse. A slitlamp examination did not reveal any conjunctival hyperemia, foreign bodies, or other abnormalities like those shown in the photograph. Her uncorrected visual acuity was 20/20, extraocular movements were full and without pain or abnormal sensation, and intraocular pressure was normal. Her dilated fundus examination was unremarkable. A comprehensive blood cell count revealed mild elevation in the relative (but not absolute) eosinophil count (6.9% reference; 6.0% of white blood cells). ### OUTPUT:
JAMA_FINAL34
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 42-year-old woman with asthma, seasonal allergies, and invasive ductal breast carcinoma presented to the dermatology clinic for rash and poor wound healing 2 weeks after bilateral mastectomy. Five days after surgery, the patient noted erythema, edema, pain, pruritus, and serous fluid drainage at the mastectomy incision sites (Figure 1). Two days later, she developed an erythematous papulovesicular rash on her trunk and upper and lower extremities. A skin swab was sent for bacterial culture, and she was prescribed cefadroxil (500 mg twice daily for 1 week). The skin swab bacterial culture result was negative, and her skin findings did not improve with antibiotics. The patient reported having a similar episode of rash and delayed wound healing after laparoscopy 1 year prior to presentation. ### OUTPUT:
Allergic contact dermatitis due to use of surgical skin glue
['Dermatology', 'Allergy and Clinical Immunology', "Women's Health", 'Breast Cancer', 'Oncology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 42-year-old man with asthma, seasonal allergies, and invasive ductal breast carcinoma presented to the dermatology clinic for rash and poor wound healing 2 weeks after bilateral mastectomy. Five days after surgery, the patient noted erythema, edema, pain, pruritus, and serous fluid drainage at the mastectomy incision sites (Figure 1). Two days later, he developed an erythematous papulovesicular rash on his trunk and upper and lower extremities. A skin swab was sent for bacterial culture, and he was prescribed cefadroxil (500 mg twice daily for 1 week). The skin swab bacterial culture result was negative, and his skin findings did not improve with antibiotics. The patient reported having a similar episode of rash and delayed wound healing after laparoscopy 1 year prior to presentation. ### OUTPUT:
JAMA_FINAL35
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 60s with long-standing thickening and induration of the legs presented with 1 week of left leg pain. The patient had previously been diagnosed with elephantiasis nostras verrucosa, and she was advised to elevate and compress the leg but was unavailable for follow-up. Her medical history was notable for morbid obesity, hypertension, diabetes, and stroke. She reported no fever, fatigue, weight changes, gastrointestinal symptoms, difficulty concentrating, anxiety, or hyperhidrosis. Physical examination results revealed multiple firm skin-colored papules and nodules coalescing to form a large plaque on the anterior aspect of the left lower leg, whereas the right lower leg had diffuse induration and hyperpigmentation (Figure 1). There was no palpable lymphadenopathy. Laboratory analysis revealed normal complete blood cell count, thyroid function, serum protein electrophoresis, and serum immunofixation. A biopsy of a left leg nodule was performed. ### OUTPUT:
Euthyroid pretibial mucinosis
['Dermatology', 'Obesity', 'Venous Disease']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 60s with long-standing thickening and induration of the legs presented with 1 week of left leg pain. The patient had previously been diagnosed with elephantiasis nostras verrucosa, and he was advised to elevate and compress the leg but was unavailable for follow-up. His medical history was notable for morbid obesity, hypertension, diabetes, and stroke. He reported no fever, fatigue, weight changes, gastrointestinal symptoms, difficulty concentrating, anxiety, or hyperhidrosis. Physical examination results revealed multiple firm skin-colored papules and nodules coalescing to form a large plaque on the anterior aspect of the left lower leg, whereas the right lower leg had diffuse induration and hyperpigmentation (Figure 1). There was no palpable lymphadenopathy. Laboratory analysis revealed normal complete blood cell count, thyroid function, serum protein electrophoresis, and serum immunofixation. A biopsy of a left leg nodule was performed. ### OUTPUT:
JAMA_FINAL36
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A previously healthy 16-year-old girl presented to our department with a red tumor on her right upper arm that enlarged over 6 months. The lesion initially started as a small cutaneous nodule without obvious triggers that gradually developed and enlarged to form a red-colored tumor with a hard nodule inside. There was no history of local trauma or insect bite. Her personal, past, and family histories were unremarkable. On physical examination, there was a 6 × 6-cm protuberant, thick-walled, and well-defined red bullalike tumor on the right upper arm, which extended 1 to 3 cm from the epidermal surface (Figure, A). Inside the tumor, a nontender, firm-to-hard nodule was palpated. There was no regional lymphadenopathy, and results of the rest of the physical and systemic examinations were normal. Laboratory examinations of hematologic, biochemical, and urinalysis tests were normal. The tumor was excised completely under local anesthesia, and part of the tissue was sent for pathological examination. ### OUTPUT:
Bullous pilomatricoma
['Pediatrics', 'Adolescent Medicine', 'Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A previously healthy 16-year-old boy presented to our department with a red tumor on his right upper arm that enlarged over 6 months. The lesion initially started as a small cutaneous nodule without obvious triggers that gradually developed and enlarged to form a red-colored tumor with a hard nodule inside. There was no history of local trauma or insect bite. His personal, past, and family histories were unremarkable. On physical examination, there was a 6 × 6-cm protuberant, thick-walled, and well-defined red bullalike tumor on the right upper arm, which extended 1 to 3 cm from the epidermal surface (Figure, A). Inside the tumor, a nontender, firm-to-hard nodule was palpated. There was no regional lymphadenopathy, and results of the rest of the physical and systemic examinations were normal. Laboratory examinations of hematologic, biochemical, and urinalysis tests were normal. The tumor was excised completely under local anesthesia, and part of the tissue was sent for pathological examination. ### OUTPUT:
JAMA_FINAL37
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 73-year-old man with a history of gastroesophageal reflux disease and Raynaud disease but no history of cigarette smoking presented to the emergency department with 4 weeks of dysphagia and a 4.54-kg (10-lb) weight loss over 3 months. He had no nausea, vomiting, abdominal pain, melena, or hematochezia but reported a cough productive of yellow sputum, dyspnea on exertion, and fatigue. The patient had been treated for presumed pneumonia with 3 courses of azithromycin over the prior 3 months due to infiltrates on a chest radiograph. He reported no known ill contacts or recent travel outside the US. At presentation, his heart rate and blood pressure were normal, and oxygen saturation was 95% on room air. Physical examination revealed a maculopapular rash over his neck and chest (Figure, left panel) and bibasilar crackles on lung auscultation. Laboratory testing showed a white blood cell count of 14.3 × 103/μL (reference, 4.2-9.1 × 103/μL); creatine kinase level, 2060 U/L (34.40 μkat/L) (reference, 44-196 U/L [0.73-3.27 μkat/L]), aldolase level, 18 U/L (0.30 μkat/L) (reference, <8 U/L [<0.13 μkat/L]), C-reactive protein level, 30 mg/L (reference, <8 mg/L), and erythrocyte sedimentation rate, 35 mm/h (reference, <20 mm/h). Antinuclear antibody immunofluorescent assay findings were positive. Results from testing for HIV, hepatitis B, and hepatitis C were negative. A barium swallow study showed no visualized aspiration. Endoscopy revealed clean-based esophageal and duodenal ulcers and nonspecific gastritis. Chest computed tomography (CT) showed bibasilar pulmonary consolidations and ground glass opacities (Figure, right panel). ### OUTPUT:
Antisynthetase syndrome
['Rheumatology', 'Cardiology', 'Otolaryngology', 'Swallowing and Dysphagia', 'Pulmonary Medicine']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 73-year-old woman with a history of gastroesophageal reflux disease and Raynaud disease but no history of cigarette smoking presented to the emergency department with 4 weeks of dysphagia and a 4.54-kg (10-lb) weight loss over 3 months. She had no nausea, vomiting, abdominal pain, melena, or hematochezia but reported a cough productive of yellow sputum, dyspnea on exertion, and fatigue. The patient had been treated for presumed pneumonia with 3 courses of azithromycin over the prior 3 months due to infiltrates on a chest radiograph. She reported no known ill contacts or recent travel outside the US. At presentation, her heart rate and blood pressure were normal, and oxygen saturation was 95% on room air. Physical examination revealed a maculopapular rash over her neck and chest (Figure, left panel) and bibasilar crackles on lung auscultation. Laboratory testing showed a white blood cell count of 14.3 × 103/μL (reference, 4.2-9.1 × 103/μL); creatine kinase level, 2060 U/L (34.40 μkat/L) (reference, 44-196 U/L [0.73-3.27 μkat/L]), aldolase level, 18 U/L (0.30 μkat/L) (reference, <8 U/L [<0.13 μkat/L]), C-reactive protein level, 30 mg/L (reference, <8 mg/L), and erythrocyte sedimentation rate, 35 mm/h (reference, <20 mm/h). Antinuclear antibody immunofluorescent assay findings were positive. Results from testing for HIV, hepatitis B, and hepatitis C were negative. A barium swallow study showed no visualized aspiration. Endoscopy revealed clean-based esophageal and duodenal ulcers and nonspecific gastritis. Chest computed tomography (CT) showed bibasilar pulmonary consolidations and ground glass opacities (Figure, right panel). ### OUTPUT:
JAMA_FINAL38
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 15-year-old girl presented with a 2-month history of decreased vision and a dark spot in the central vision in her right eye. She had a history of optometric examinations with no known ocular disease. Visual acuity with correction was 20/40 in the right eye and 20/20 in the left eye. Anterior segment examination of both eyes was unremarkable, and the retina in the left eye appeared normal. In the right eye, there was an area of superior macular whitening with associated intraretinal hemorrhages and exudates. Fluorescein angiography showed abnormally dilated and tortuous retinal vessels, irregular capillary branching patterns, and bulblike telangiectasis with late leakage in the superior macula. Optical coherence tomography showed disorganized and hyperreflective inner retinal thickening (Figure, A) and intraretinal and subretinal fluid in the central macula. On review of systems, the patient noted a long-standing growth on her cheek, which on examination was a 4 × 3-mm exophytic, brownish-red vascular papule (Figure, B), as well as a history of lightly pigmented patches of skin and multiple subungual fibromas on her toes. Systemic blood pressure was normal. ### OUTPUT:
Astrocytic hamartoma (with secondary branch retinal vein occlusion) associated with tuberous sclerosis complex
['Dermatology', 'Adolescent Medicine', 'Ophthalmology', 'Macular Diseases', 'Pediatrics']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 15-year-old boy presented with a 2-month history of decreased vision and a dark spot in the central vision in his right eye. He had a history of optometric examinations with no known ocular disease. Visual acuity with correction was 20/40 in the right eye and 20/20 in the left eye. Anterior segment examination of both eyes was unremarkable, and the retina in the left eye appeared normal. In the right eye, there was an area of superior macular whitening with associated intraretinal hemorrhages and exudates. Fluorescein angiography showed abnormally dilated and tortuous retinal vessels, irregular capillary branching patterns, and bulblike telangiectasis with late leakage in the superior macula. Optical coherence tomography showed disorganized and hyperreflective inner retinal thickening (Figure, A) and intraretinal and subretinal fluid in the central macula. On review of systems, the patient noted a long-standing growth on his cheek, which on examination was a 4 × 3-mm exophytic, brownish-red vascular papule (Figure, B), as well as a history of lightly pigmented patches of skin and multiple subungual fibromas on his toes. Systemic blood pressure was normal. ### OUTPUT:
JAMA_FINAL39
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 80s presented to the dermatology clinic with a 3-month history of a violaceous plaque with blackish papules and nodules on his left cheek, neck, and chest. He reported that the lesion had been asymptomatic but was increasing in size, with progression from his face to anterior chest. He received a diagnosis of primary salivary duct carcinoma of the hard palate 1 year prior and had been receiving treatment with oral bicalutamide and radiotherapy. A partially regressive change of the palatal tumor was noted radiographically during regular follow-up 3 months previously. On clinical examination, a hemorrhagic and erythematous plaque with multiple purpuric-to-blackish infiltrative papules and nodules extending from cheek, lateral neck, to the interclavicular area was found (Figure 1). An incisional biopsy from the infiltrative nodule on cheek was performed and submitted for histopathologic analysis. ### OUTPUT:
Carcinoma hemorrhagiectoides
['Oncology', 'Otolaryngology', 'Salivary Gland Disorders', 'Dermatology', 'Geriatrics']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 80s presented to the dermatology clinic with a 3-month history of a violaceous plaque with blackish papules and nodules on her left cheek, neck, and chest. She reported that the lesion had been asymptomatic but was increasing in size, with progression from her face to anterior chest. She received a diagnosis of primary salivary duct carcinoma of the hard palate 1 year prior and had been receiving treatment with oral bicalutamide and radiotherapy. A partially regressive change of the palatal tumor was noted radiographically during regular follow-up 3 months previously. On clinical examination, a hemorrhagic and erythematous plaque with multiple purpuric-to-blackish infiltrative papules and nodules extending from cheek, lateral neck, to the interclavicular area was found (Figure 1). An incisional biopsy from the infiltrative nodule on cheek was performed and submitted for histopathologic analysis. ### OUTPUT:
JAMA_FINAL40
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 56-year-old woman with a history of multiple myeloma complicated by therapy-related acute myeloid leukemia was admitted for myeloablative conditioning in preparation for allogeneic hematopoietic cell transplant. Her course was complicated by severe mucositis, acute kidney injury, and neutropenic fever. During her admission, the patient also developed painful necrotic skin lesions, a nonproductive cough, and altered mental status. Physical examination findings demonstrated dusky, purpuric, and pink papulonodules, some with overlying eschar, scattered on the scalp, neck, trunk, and extremities (Figure, A). Laboratory study results revealed a white blood cell count of 150/μL (reference range, 3500/μL to 10 500/μL), an absolute neutrophil count of 130/μL (reference range, 1500/μL to 7400/μL), and a platelet count of 19 ×103/μL (reference range, 150 ×103/μL to 400 ×103/μL). (To convert the white blood cell and neutrophil counts to cells ×109/L, multiply by 0.001; conversion of the platelet count to cells ×109/L is 1:1.) Blood culture results were negative. The results of a computed tomography (CT) scan of the brain showed no acute intracranial hemorrhage, territorial infarction, or mass effect. The results of a CT scan of the chest demonstrated multifocal bilateral ground-glass patchy opacities, scattered solid bilateral pulmonary nodules, and a moderately sized pericardial effusion. A biopsy specimen from a skin nodule on the left lateral thigh was obtained for histopathologic examination and tissue culture, and wet mount preparation of a tissue culture colony was performed (Figure, B). ### OUTPUT:
Disseminated fusariosis
['Infectious Diseases', 'Skin Infections', 'Dermatology', 'Hematology', 'Oncology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 56-year-old man with a history of multiple myeloma complicated by therapy-related acute myeloid leukemia was admitted for myeloablative conditioning in preparation for allogeneic hematopoietic cell transplant. His course was complicated by severe mucositis, acute kidney injury, and neutropenic fever. During his admission, the patient also developed painful necrotic skin lesions, a nonproductive cough, and altered mental status. Physical examination findings demonstrated dusky, purpuric, and pink papulonodules, some with overlying eschar, scattered on the scalp, neck, trunk, and extremities (Figure, A). Laboratory study results revealed a white blood cell count of 150/μL (reference range, 3500/μL to 10 500/μL), an absolute neutrophil count of 130/μL (reference range, 1500/μL to 7400/μL), and a platelet count of 19 ×103/μL (reference range, 150 ×103/μL to 400 ×103/μL). (To convert the white blood cell and neutrophil counts to cells ×109/L, multiply by 0.001; conversion of the platelet count to cells ×109/L is 1:1.) Blood culture results were negative. The results of a computed tomography (CT) scan of the brain showed no acute intracranial hemorrhage, territorial infarction, or mass effect. The results of a CT scan of the chest demonstrated multifocal bilateral ground-glass patchy opacities, scattered solid bilateral pulmonary nodules, and a moderately sized pericardial effusion. A biopsy specimen from a skin nodule on the left lateral thigh was obtained for histopathologic examination and tissue culture, and wet mount preparation of a tissue culture colony was performed (Figure, B). ### OUTPUT:
JAMA_FINAL41
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 67-year-old man with thoracolumbar scoliosis, poor mobility, and history of frequent falls presented to the emergency department with 2 months of left shoulder pain, stiffness and reduced range of motion, and numbness and paresthesias in his left upper extremity. Ten years prior to presentation, he underwent surgical decompression for syringomyelia. A magnetic resonance imaging (MRI) scan of his cervical and thoracic spine performed 2 years prior to presentation revealed a recurrent syrinx extending from C1 to T11, which was not resected because it did not cause symptoms at that time. On physical examination, he had mild tenderness to palpation and reduced range of motion of the left shoulder with abduction and flexion limited to 120° (normal range of motion, 180°). The left scapular muscles were atrophic, and pain and temperature sensation were reduced in his proximal left arm, and dorsal aspect of his left shoulder. His complete blood cell count, serum glucose levels, C-reactive protein levels, and erythrocyte sedimentation rate were normal. Results of tests for rheumatoid factor and antinuclear antibody were negative. Left shoulder radiograph showed complete absence of the left humeral head and a well-demarcated smooth osseous margin of the proximal humerus with associated soft tissue swelling and periarticular calcification (Figure 1). A chest radiograph taken 2 years prior revealed a normal left shoulder joint. The patient was hospitalized for further evaluation and treatment. ### OUTPUT:
Neuropathic arthropathy of the shoulder (Charcot shoulder)
['Emergency Medicine', 'Neurology', 'Rheumatology', 'Spinal Cord Disorders', 'Radiology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 67-year-old woman with thoracolumbar scoliosis, poor mobility, and history of frequent falls presented to the emergency department with 2 months of left shoulder pain, stiffness and reduced range of motion, and numbness and paresthesias in her left upper extremity. Ten years prior to presentation, she underwent surgical decompression for syringomyelia. A magnetic resonance imaging (MRI) scan of her cervical and thoracic spine performed 2 years prior to presentation revealed a recurrent syrinx extending from C1 to T11, which was not resected because it did not cause symptoms at that time. On physical examination, she had mild tenderness to palpation and reduced range of motion of the left shoulder with abduction and flexion limited to 120° (normal range of motion, 180°). The left scapular muscles were atrophic, and pain and temperature sensation were reduced in her proximal left arm, and dorsal aspect of her left shoulder. Her complete blood cell count, serum glucose levels, C-reactive protein levels, and erythrocyte sedimentation rate were normal. Results of tests for rheumatoid factor and antinuclear antibody were negative. Left shoulder radiograph showed complete absence of the left humeral head and a well-demarcated smooth osseous margin of the proximal humerus with associated soft tissue swelling and periarticular calcification (Figure 1). A chest radiograph taken 2 years prior revealed a normal left shoulder joint. The patient was hospitalized for further evaluation and treatment. ### OUTPUT:
JAMA_FINAL42
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 68-year-old man with a remote history of B-cell lymphoma and active renal cell carcinoma (RCC), receiving cabozantinib therapy, was referred for worsening hazy vision in the right eye after recent outside retinal detachment (RD) repair of the left eye, with pars plana vitrectomy and gas. The patient noted blurry vision started around the time of cabozantinib therapy initiation. Cabozantinib therapy was discontinued for surgery and resumed 3 days later. The referring retina specialist noted vitritis and vasculitis intraoperatively, but the result of vitreous biopsy cytology was negative for malignant cells. At presentation to our institution, the patient was taking oral prednisone, 40 mg/d. His visual acuity was 20/500 OD and hand motions OS, with an intraocular pressure of 18 mm Hg in both eyes. Right eye slitlamp examination results showed pigmented cells in the anterior chamber and lens capsule; the left eye showed prolapsed pigmented vitreous at the pupillary margin. Right eye fundus examination results revealed sheets of pigmented cell and vascular sheathing with optic nerve pallor. The left eye had a poor view, with 90% gas fill. Fluorescein angiography illustrated disc and vessel leakage (predominantly arteriole), capillary dropout, and peripheral nonperfusion in the right eye (Figure 1A) with no view in the left eye. Optical coherence tomography revealed debris at the vitreoretinal interface (Figure 1B). ### OUTPUT:
Renal cell carcinoma bilateral ocular metastasis
['Surgery', 'Surgical Oncology', 'Oncology', 'Retinal Disorders', 'Ophthalmology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 68-year-old woman with a remote history of B-cell lymphoma and active renal cell carcinoma (RCC), receiving cabozantinib therapy, was referred for worsening hazy vision in the right eye after recent outside retinal detachment (RD) repair of the left eye, with pars plana vitrectomy and gas. The patient noted blurry vision started around the time of cabozantinib therapy initiation. Cabozantinib therapy was discontinued for surgery and resumed 3 days later. The referring retina specialist noted vitritis and vasculitis intraoperatively, but the result of vitreous biopsy cytology was negative for malignant cells. At presentation to our institution, the patient was taking oral prednisone, 40 mg/d. Her visual acuity was 20/500 OD and hand motions OS, with an intraocular pressure of 18 mm Hg in both eyes. Right eye slitlamp examination results showed pigmented cells in the anterior chamber and lens capsule; the left eye showed prolapsed pigmented vitreous at the pupillary margin. Right eye fundus examination results revealed sheets of pigmented cell and vascular sheathing with optic nerve pallor. The left eye had a poor view, with 90% gas fill. Fluorescein angiography illustrated disc and vessel leakage (predominantly arteriole), capillary dropout, and peripheral nonperfusion in the right eye (Figure 1A) with no view in the left eye. Optical coherence tomography revealed debris at the vitreoretinal interface (Figure 1B). ### OUTPUT:
JAMA_FINAL43
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A Chinese woman in her late 20s presented with a 20-year history of progressive skin laxity. In early childhood, she had developed asymptomatic yellowish coalesced papules confined to flexural areas. Subsequently, severe skin sagging occurred on her abdomen with loss of elasticity, then spread extensively with developmental growth. The results of a physical examination showed thick and leathery skinfolds on the neck, axillae, inguinal regions, abdomen, and limbs (Figure, A), with yellowish papules scattered on the dorsal neck. The patient had no extracutaneous involvement and was born to healthy nonconsanguineous parents. However, her younger sister had developed the same skin symptoms. Coagulation-related tests indicated a low clotting activity of factor X (52.2%; reference range, 77%-131%) and a prolonged prothrombin time (12.8 seconds; reference range, 10.4-12.6 seconds). The results of other laboratory investigations were unremarkable. Echocardiographic and fundoscopic examination results were normal. A skin biopsy specimen was obtained from her neck for histopathologic examination (Figure, B). ### OUTPUT:
Pseudoxanthoma elasticum–like disorder with coagulation deficiency
['Coagulation Disorders', 'Dermatology', 'Hematology', 'Rheumatology', 'Connective Tissue Disease of the Skin']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A Chinese man in his late 20s presented with a 20-year history of progressive skin laxity. In early childhood, he had developed asymptomatic yellowish coalesced papules confined to flexural areas. Subsequently, severe skin sagging occurred on his abdomen with loss of elasticity, then spread extensively with developmental growth. The results of a physical examination showed thick and leathery skinfolds on the neck, axillae, inguinal regions, abdomen, and limbs (Figure, A), with yellowish papules scattered on the dorsal neck. The patient had no extracutaneous involvement and was born to healthy nonconsanguineous parents. However, his younger sister had developed the same skin symptoms. Coagulation-related tests indicated a low clotting activity of factor X (52.2%; reference range, 77%-131%) and a prolonged prothrombin time (12.8 seconds; reference range, 10.4-12.6 seconds). The results of other laboratory investigations were unremarkable. Echocardiographic and fundoscopic examination results were normal. A skin biopsy specimen was obtained from his neck for histopathologic examination (Figure, B). ### OUTPUT:
JAMA_FINAL44
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 15-year-old male presented to the pediatric otolaryngology clinic with dysphagia to solid foods, and dyspnea when lying on the right side that was progressive during 8 months. He denied pain, aspiration, noisy breathing, obstructive episodes, dysphonia, and weight loss. A physical examination revealed fullness in the left oropharynx and left level 3 of the neck. Findings of flexible laryngoscopy showed a submucosal mass in the left oropharynx extending inferiorly into the hypopharynx, obliterating the left pyriform sinus, abutting the base of tongue with hooding over the epiglottis. The supraglottis and glottis were unremarkable. Computed tomography imaging with contrast of the neck revealed a 4.6 × 4.0 × 8.0-cm heterogeneously enhancing mass in the left oropharynx and hypopharynx with cystic components and clear planes separating the mass from the spinal musculature and carotid sheath (Figure 1). ### OUTPUT:
Pediatric fibromyxoid soft tissue tumor
['Otolaryngology', 'Swallowing and Dysphagia', 'Pediatrics', 'Adolescent Medicine']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 15-year-old female presented to the pediatric otolaryngology clinic with dysphagia to solid foods, and dyspnea when lying on the right side that was progressive during 8 months. She denied pain, aspiration, noisy breathing, obstructive episodes, dysphonia, and weight loss. A physical examination revealed fullness in the left oropharynx and left level 3 of the neck. Findings of flexible laryngoscopy showed a submucosal mass in the left oropharynx extending inferiorly into the hypopharynx, obliterating the left pyriform sinus, abutting the base of tongue with hooding over the epiglottis. The supraglottis and glottis were unremarkable. Computed tomography imaging with contrast of the neck revealed a 4.6 × 4.0 × 8.0-cm heterogeneously enhancing mass in the left oropharynx and hypopharynx with cystic components and clear planes separating the mass from the spinal musculature and carotid sheath (Figure 1). ### OUTPUT:
JAMA_FINAL45
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 60s presented to our clinic with a 5-year history of diffuse erythematous, edematous annular plaques (Figure 1); low-grade fevers; and mild leukopenia. The result of a skin biopsy performed 4 years prior was interpreted as subacute cutaneous lupus erythematosus (SCLE). Treatments included hydroxychloroquine, 400 mg/d, for 4 years; mycophenolate mofetil, 1000 mg/d, for 6 months; and oral prednisone tapers, starting at 40 mg/d. Of these, only prednisone appeared to elicit a response. Review of symptoms was negative for fatigue, weight loss, cough, shortness of breath, joint pain, ocular symptoms, mucosal ulcerations, history of blood clots, photosensitivity, pleurisy, urine changes, and diarrhea. Medical history included hypertension, for which he took losartan, and seasonal allergies, for which he used fexofenadine and fluticasone. Laboratory evaluation revealed mild neutropenia and lymphopenia with normal hemoglobin and platelet counts. Antinuclear antibody screening results were negative. The results of a comprehensive metabolic panel, C3, C4, serum protein electrophoresis, serum free light chains, methylmalonic acid, homocysteine, ferritin, copper, zinc, haptoglobin, HIV, hepatitis B and C serologic tests, and rapid plasma reagin were negative. Lactate dehydrogenase was mildly elevated. Erythrocyte sedimentation rate was elevated at 41 mm/h. Routine cancer screening was up to date. Therapeutic trials of dapsone and dapsone in combination with colchicine were not effective. ### OUTPUT:
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) syndrome
['Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 60s presented to our clinic with a 5-year history of diffuse erythematous, edematous annular plaques (Figure 1); low-grade fevers; and mild leukopenia. The result of a skin biopsy performed 4 years prior was interpreted as subacute cutaneous lupus erythematosus (SCLE). Treatments included hydroxychloroquine, 400 mg/d, for 4 years; mycophenolate mofetil, 1000 mg/d, for 6 months; and oral prednisone tapers, starting at 40 mg/d. Of these, only prednisone appeared to elicit a response. Review of symptoms was negative for fatigue, weight loss, cough, shortness of breath, joint pain, ocular symptoms, mucosal ulcerations, history of blood clots, photosensitivity, pleurisy, urine changes, and diarrhea. Medical history included hypertension, for which she took losartan, and seasonal allergies, for which she used fexofenadine and fluticasone. Laboratory evaluation revealed mild neutropenia and lymphopenia with normal hemoglobin and platelet counts. Antinuclear antibody screening results were negative. The results of a comprehensive metabolic panel, C3, C4, serum protein electrophoresis, serum free light chains, methylmalonic acid, homocysteine, ferritin, copper, zinc, haptoglobin, HIV, hepatitis B and C serologic tests, and rapid plasma reagin were negative. Lactate dehydrogenase was mildly elevated. Erythrocyte sedimentation rate was elevated at 41 mm/h. Routine cancer screening was up to date. Therapeutic trials of dapsone and dapsone in combination with colchicine were not effective. ### OUTPUT:
JAMA_FINAL46
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her early 40s, gravida 3, para 3, with a history of migraines and recurrent preeclampsia and who was 11 weeks post partum presented with acute pleuritic chest pain, shortness of breath, and nausea that started several hours after a flight from Florida to New York City. She was noted to have tachycardia (110 beats/min) and hypoxemia (90% receiving room air) with a blood pressure of 106/81 mm Hg. Cardiac, respiratory, and pulse examination results were unremarkable. She denied any clear physical or emotional triggers preceding presentation. Before presentation, the patient reported good health with satisfactory employment-mandated routine physical examinations. She denied a history of smoking, alcohol, or illicit drug use. She was not taking hormonal birth control or hormone therapy. Laboratory values demonstrated a normal complete blood cell count and metabolic panel. Chest radiograph results were unremarkable. A computed tomographic chest scan excluded pulmonary embolism but suggested pulmonary and interstitial edema. Results of an electrocardiogram revealed sinus tachycardia with premature ventricular contractions, subcentimeter ST-segment elevation in leads I and aVL and 1-mm ST-segment depression in leads II, III, aVF, and V5 through V6. Initial high-sensitivity troponin was 110 000 ng/mL (to convert to micrograms per liter, multiply by 1). Results of cardiac point-of-care ultrasonography demonstrated a severely reduced left ventricular ejection fraction of 40%, with hypokinesis of the anterolateral and posterior walls. Emergent cardiac catheterization revealed spontaneous coronary artery dissection (SCAD) of the left main coronary artery (Figure 1 and Video). ### OUTPUT:
Spontaneous coronary artery dissection of the left main coronary artery
['Acute Coronary Syndromes', 'Emergency Medicine', 'Pregnancy', 'Obstetrics', 'Obstetrics and Gynecology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his early 40s, with a history of migraines and recurrent health issues, presented with acute pleuritic chest pain, shortness of breath, and nausea that started several hours after a flight from Florida to New York City. He was noted to have tachycardia (110 beats/min) and hypoxemia (90% receiving room air) with a blood pressure of 106/81 mm Hg. Cardiac, respiratory, and pulse examination results were unremarkable. He denied any clear physical or emotional triggers preceding presentation. Before presentation, the patient reported good health with satisfactory employment-mandated routine physical examinations. He denied a history of smoking, alcohol, or illicit drug use. He was not taking hormonal birth control or hormone therapy. Laboratory values demonstrated a normal complete blood cell count and metabolic panel. Chest radiograph results were unremarkable. A computed tomographic chest scan excluded pulmonary embolism but suggested pulmonary and interstitial edema. Results of an electrocardiogram revealed sinus tachycardia with premature ventricular contractions, subcentimeter ST-segment elevation in leads I and aVL and 1-mm ST-segment depression in leads II, III, aVF, and V5 through V6. Initial high-sensitivity troponin was 110 000 ng/mL (to convert to micrograms per liter, multiply by 1). Results of cardiac point-of-care ultrasonography demonstrated a severely reduced left ventricular ejection fraction of 40%, with hypokinesis of the anterolateral and posterior walls. Emergent cardiac catheterization revealed spontaneous coronary artery dissection (SCAD) of the left main coronary artery (Figure 1 and Video). ### OUTPUT:
JAMA_FINAL47
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 60-year-old Black patient presented to the emergency department with a 2-month history of chest pain and shortness of breath with exertion, 3 months of toe numbness, and unintended weight loss of 8 kg over 6 months. The patient also had a history of lumbar spinal stenosis. On presentation, blood pressure was 104/73 mm Hg; heart rate, 91/min; respiratory rate, 16/min; and oxygen saturation, 96% on room air. Physical examination revealed edema to the mid-calf bilaterally, hypoesthesia below the knees, and ankle plantar flexion strength of 3 of 5 based on the Medical Research Council Scale for muscle strength. Laboratory testing revealed a high-sensitivity troponin level of 52 ng/L (reference, <34 ng/L); brain-type natriuretic peptide, 112 pmol/L (reference, <30 pmol/L); aspartate aminotransferase, 51 U/L (0.85 μkat/L) (reference, 0-35 U/L [0-0.58 μkat/L]); and alanine aminotransferase, 76 U/L (1.27 μkat/L) (reference, 0-45 U/L [0-0.75 μkat/L]). A chest radiograph showed cardiomegaly without pulmonary vascular redistribution or pulmonary edema. An electrocardiogram revealed normal sinus rhythm, left anterior fascicular block, and down-sloping anterolateral ST segments. The patient was admitted to the hospital, where electromyography results included reduced amplitude of peroneal nerve action potentials, consistent with axonal sensorimotor polyneuropathy of the bilateral lower extremities. Coronary angiography showed no coronary atherosclerosis, and cardiac magnetic resonance imaging demonstrated asymmetric left ventricular hypertrophy. Results of serum protein electrophoresis (SPEP) and serum free light chain testing were normal. A bone scintigraphy scan using technetium Tc 99m–labeled hydroxymethylene diphosphonate demonstrated increased cardiac uptake (Figure). ### OUTPUT:
Variant transthyretin amyloidosis
['Genetics and Genomics', 'Heart Failure', 'Neurogenetics', 'Neuroimaging', 'Neuromuscular Diseases']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 60-year-old Black patient presented to the emergency department with a 2-month history of chest pain and shortness of breath with exertion, 3 months of toe numbness, and unintended weight loss of 8 kg over 6 months. The patient also had a history of lumbar spinal stenosis. On presentation, blood pressure was 104/73 mm Hg; heart rate, 91/min; respiratory rate, 16/min; and oxygen saturation, 96% on room air. Physical examination revealed edema to the mid-calf bilaterally, hypoesthesia below the knees, and ankle plantar flexion strength of 3 of 5 based on the Medical Research Council Scale for muscle strength. Laboratory testing revealed a high-sensitivity troponin level of 52 ng/L (reference, <34 ng/L); brain-type natriuretic peptide, 112 pmol/L (reference, <30 pmol/L); aspartate aminotransferase, 51 U/L (0.85 μkat/L) (reference, 0-35 U/L [0-0.58 μkat/L]); and alanine aminotransferase, 76 U/L (1.27 μkat/L) (reference, 0-45 U/L [0-0.75 μkat/L]). A chest radiograph showed cardiomegaly without pulmonary vascular redistribution or pulmonary edema. An electrocardiogram revealed normal sinus rhythm, left anterior fascicular block, and down-sloping anterolateral ST segments. The patient was admitted to the hospital, where electromyography results included reduced amplitude of peroneal nerve action potentials, consistent with axonal sensorimotor polyneuropathy of the bilateral lower extremities. Coronary angiography showed no coronary atherosclerosis, and cardiac magnetic resonance imaging demonstrated asymmetric left ventricular hypertrophy. Results of serum protein electrophoresis (SPEP) and serum free light chain testing were normal. A bone scintigraphy scan using technetium Tc 99m–labeled hydroxymethylene diphosphonate demonstrated increased cardiac uptake (Figure). ### OUTPUT:
JAMA_FINAL48
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 70-year-old man presented to the dermatology clinic for evaluation of a pruritic exanthem that began on his scalp and face and spread across most of his body over a 2-month period. The patient had no fever, night sweats, fatigue, recent unintentional weight loss, shortness of breath, chest pain, nausea, vomiting, or diarrhea. He reported no new prescription medications, over-the-counter drugs, or herbal supplements prior to the onset of the exanthem. He had no history of psoriasis, atopic dermatitis, or other skin disorder, and no recent viral or bacterial infection. On presentation, his temperature was 37.1 °C (98.7 °F); blood pressure, 128/86 mm Hg; heart rate, 110/min; and respiratory rate, 30/min. Physical examination revealed confluent salmon-colored plaques composed of folliculocentric scaly papules across his body with several patches of unaffected skin on his trunk. The patient had waxy, exfoliative scale on the volar aspect of his hands and feet and thickened, onycholytic nails. Severe ectropion prevented complete eyelid closure (Figure). He was referred to the emergency department, where laboratory testing revealed a normal complete blood cell count and normal lactate dehydrogenase level. The patient was admitted to the hospital and was treated with intravenous fluids and daily wet-wrap therapy with topical triamcinolone ointment (0.1%) applied to his trunk, arms, and legs, followed by a layer of warm, damp gauze and dry, cotton pajamas. ### OUTPUT:
Erythrodermic pityriasis rubra pilaris
['Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 70-year-old woman presented to the dermatology clinic for evaluation of a pruritic exanthem that began on her scalp and face and spread across most of her body over a 2-month period. The patient had no fever, night sweats, fatigue, recent unintentional weight loss, shortness of breath, chest pain, nausea, vomiting, or diarrhea. She reported no new prescription medications, over-the-counter drugs, or herbal supplements prior to the onset of the exanthem. She had no history of psoriasis, atopic dermatitis, or other skin disorder, and no recent viral or bacterial infection. On presentation, her temperature was 37.1 °C (98.7 °F); blood pressure, 128/86 mm Hg; heart rate, 110/min; and respiratory rate, 30/min. Physical examination revealed confluent salmon-colored plaques composed of folliculocentric scaly papules across her body with several patches of unaffected skin on her trunk. The patient had waxy, exfoliative scale on the volar aspect of her hands and feet and thickened, onycholytic nails. Severe ectropion prevented complete eyelid closure (Figure). She was referred to the emergency department, where laboratory testing revealed a normal complete blood cell count and normal lactate dehydrogenase level. The patient was admitted to the hospital and was treated with intravenous fluids and daily wet-wrap therapy with topical triamcinolone ointment (0.1%) applied to her trunk, arms, and legs, followed by a layer of warm, damp gauze and dry, cotton pajamas. ### OUTPUT:
JAMA_FINAL49
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 46-year-old man presented for an evaluation of a lesion on the dorsal tongue. The patient was asymptomatic and unaware of the lesion prior to it being discovered by his dentist. He underwent incisional biopsy at another institution and presented for a second opinion on the diagnosis. Overall, he was in good health with no underlying systemic diseases. Results of the most recent serologic analysis and urinalysis were also reportedly within normal limits. The extraoral examination was unremarkable, with no skin lesions, asymmetry, redness, swelling, or lymphadenopathy observed. The intraoral examination revealed an erythematous denuded area of the midline posterior dorsal tongue, with a central nodular component (Figure 1A). The nodule was firm to palpation and nontender. The remaining oral soft tissue was unremarkable. Because a biopsy specimen was already obtained, blank slides were requested from the aforementioned institution, and staining was performed in house. ### OUTPUT:
Localized amyloidosis (amyloidoma)
['Otolaryngology', 'Dental Medicine']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 46-year-old woman presented for an evaluation of a lesion on the dorsal tongue. The patient was asymptomatic and unaware of the lesion prior to it being discovered by her dentist. She underwent incisional biopsy at another institution and presented for a second opinion on the diagnosis. Overall, she was in good health with no underlying systemic diseases. Results of the most recent serologic analysis and urinalysis were also reportedly within normal limits. The extraoral examination was unremarkable, with no skin lesions, asymmetry, redness, swelling, or lymphadenopathy observed. The intraoral examination revealed an erythematous denuded area of the midline posterior dorsal tongue, with a central nodular component (Figure 1A). The nodule was firm to palpation and nontender. The remaining oral soft tissue was unremarkable. Because a biopsy specimen was already obtained, blank slides were requested from the aforementioned institution, and staining was performed in house. ### OUTPUT:
JAMA_FINAL50
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his late 60s was referred to the dermatologic clinic with a 10-day history of fever up to 38.5 °C and tender lesions on the neck and trunk. In the previous month, he had received the first cycle of a chemotherapeutic regimen of ixazomib, lenalidomide, and dexamethasone to treat a recurrence of IgG-κ multiple myeloma with a 10-year history. Physical examination showed annular erythematous plaques of up to 2 cm in diameter, with violaceous and crusted centers on the neck and trunk. On the right chest, an annular erythematous lesion with 2 zones of color—a central area of purpura and an outer erythematous and edematous ring—was present (Figure, A). Laboratory investigations found pancytopenia: a white blood cell count of 2.3 × 103/μL (reference range, 3.5-9.8 × 103/μL), hemoglobin levels of 12.1 g/dL (reference range, 13.5-17.6 g/dL), platelet count of 29 × 103/μL (reference range, 130-400 × 103μL), and elevated serum C-reactive protein levels of 3.31 mg/dL (reference range, <0.30 mg/dL). Blood culture results were negative. Granulocyte colony-stimulating factor analogs had not been prescribed to the patient. Skin biopsy from a lesion on the left chest was performed for histopathological and immunohistochemical analyses (Figure, B-D). ### OUTPUT:
Histiocytoid Sweet syndrome
['Dermatology', 'Hematology', 'Myeloma', 'Oncology', 'Hematologic Cancer']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her late 60s was referred to the dermatologic clinic with a 10-day history of fever up to 38.5 °C and tender lesions on the neck and trunk. In the previous month, she had received the first cycle of a chemotherapeutic regimen of ixazomib, lenalidomide, and dexamethasone to treat a recurrence of IgG-κ multiple myeloma with a 10-year history. Physical examination showed annular erythematous plaques of up to 2 cm in diameter, with violaceous and crusted centers on the neck and trunk. On the right chest, an annular erythematous lesion with 2 zones of color—a central area of purpura and an outer erythematous and edematous ring—was present (Figure, A). Laboratory investigations found pancytopenia: a white blood cell count of 2.3 × 103/μL (reference range, 3.5-9.8 × 103/μL), hemoglobin levels of 12.1 g/dL (reference range, 13.5-17.6 g/dL), platelet count of 29 × 103/μL (reference range, 130-400 × 103μL), and elevated serum C-reactive protein levels of 3.31 mg/dL (reference range, <0.30 mg/dL). Blood culture results were negative. Granulocyte colony-stimulating factor analogs had not been prescribed to the patient. Skin biopsy from a lesion on the left chest was performed for histopathological and immunohistochemical analyses (Figure, B-D). ### OUTPUT:
JAMA_FINAL51
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 63-year-old man with no ocular history and a history of stage 3 cutaneous melanoma of the scalp and chronic lymphocytic leukemia was referred for kaleidoscope vision. He received nivolumab (anti–programmed cell death 1 checkpoint inhibitor) 9 months prior, obinutuzumab (B-cell lymphoma 2 inhibitor) 3 months later, and 5-mg oral prednisone daily. On presentation, nivolumab and obinutuzumab treatment was complete. His visual acuity was 20/125 OD and 20/50 OS. Ophthalmoscopy revealed bilateral panuveitis with diffuse pigmentary abnormalities. Fluorescein angiography showed diffuse retinal pigment epithelium loss and late staining of the retinal lesions. He received 60 mg of oral prednisone daily for 2 weeks with a planned 10-week taper. However, prednisone was discontinued due to positive Lyme disease exposure 6 weeks later. At this time, the active anterior and vitreous cells had resolved. However, 2 weeks later, visual acuity decreased to count fingers in his right eye and hand motions in the left eye. The anterior and vitreous chambers had grade +0.5 pigmented cells. The ophthalmoscopic examination showed a leopard-spot pattern (Figure 1), and optical coherence tomography showed substantial retinal pigment epithelium and outer retinal layer loss. Repeat testing for Treponema pallidum, Lyme disease, and HIV was negative. Results of magnetic resonance imaging of the brain and orbit were negative for leukemic infiltration. ### OUTPUT:
Immune checkpoint inhibitor–induced panuveitis of both eyes
['Dermatology', 'Clinical Pharmacy and Pharmacology', 'Hematology', 'Melanoma', 'Skin Cancer']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 63-year-old woman with no ocular history and a history of stage 3 cutaneous melanoma of the scalp and chronic lymphocytic leukemia was referred for kaleidoscope vision. She received nivolumab (anti–programmed cell death 1 checkpoint inhibitor) 9 months prior, obinutuzumab (B-cell lymphoma 2 inhibitor) 3 months later, and 5-mg oral prednisone daily. On presentation, nivolumab and obinutuzumab treatment was complete. Her visual acuity was 20/125 OD and 20/50 OS. Ophthalmoscopy revealed bilateral panuveitis with diffuse pigmentary abnormalities. Fluorescein angiography showed diffuse retinal pigment epithelium loss and late staining of the retinal lesions. She received 60 mg of oral prednisone daily for 2 weeks with a planned 10-week taper. However, prednisone was discontinued due to positive Lyme disease exposure 6 weeks later. At this time, the active anterior and vitreous cells had resolved. However, 2 weeks later, visual acuity decreased to count fingers in her right eye and hand motions in the left eye. The anterior and vitreous chambers had grade +0.5 pigmented cells. The ophthalmoscopic examination showed a leopard-spot pattern (Figure 1), and optical coherence tomography showed substantial retinal pigment epithelium and outer retinal layer loss. Repeat testing for Treponema pallidum, Lyme disease, and HIV was negative. Results of magnetic resonance imaging of the brain and orbit were negative for leukemic infiltration. ### OUTPUT:
JAMA_FINAL52
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 53-year-old woman presenting with a unilateral mild cortical and nuclear cataract associated with 20/32 visual acuity in her left eye was planning to undergo phacoemulsification. A few days before surgery, she noticed a sudden decrease in her left visual acuity measured at 20/80. Her eye specialist then observed a reverse pupillary block in her left eye and referred the patient to our department. At presentation, no other remarkable medical history was recorded and no precipitating factors identified. Slitlamp examination showed a unilateral deepening of the anterior chamber associated with signs of anterior uveitis (ie, keratic precipitates and severe aqueous flare, 3+) and posterior synechiae between the iris and the lens. In addition, fundus examination revealed an inferior retinal detachment without any associated visible tear. Intraocular pressure was 15 mm Hg in the right eye and 9 mm Hg in the left eye. Anterior segment optical coherence tomography images and fundus photographs of both eyes are shown in Figure 1. ### OUTPUT:
Iris retraction syndrome
['Ophthalmology', 'Retinal Disorders']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: Final diagnosis: Iris retraction syndrome. Case report: A 53-year-old man presenting with a unilateral mild cortical and nuclear cataract associated with 20/32 visual acuity in his left eye was planning to undergo phacoemulsification. A few days before surgery, he noticed a sudden decrease in his left visual acuity measured at 20/80. His eye specialist then observed a reverse pupillary block in his left eye and referred the patient to our department. At presentation, no other remarkable medical history was recorded and no precipitating factors identified. Slitlamp examination showed a unilateral deepening of the anterior chamber associated with signs of anterior uveitis (ie, keratic precipitates and severe aqueous flare, 3+) and posterior synechiae between the iris and the lens. In addition, fundus examination revealed an inferior retinal detachment without any associated visible tear. Intraocular pressure was 15 mm Hg in the right eye and 9 mm Hg in the left eye. Anterior segment optical coherence tomography images and fundus photographs of both eyes are shown in Figure 1. ### OUTPUT:
JAMA_FINAL53
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 80s presented to the emergency department with a 4-week history of progressive weakness and fatigue, with associated development of purple bruiselike lesions on his head. He denied any history of trauma, falls, or occlusive headgear use. His medical history was significant for atrial fibrillation, receiving anticoagulation medication, and heart failure. On physical examination, numerous nontender violaceous plaques were seen on the forehead and scalp of the patient (Figure, A). On full skin examination, nonspecific skin-colored plaques were noted on the chest, and a 1.8 × 2.5-cm erythematous plaque was noted on the left lower back. There was no appreciable lymphadenopathy or hepatosplenomegaly. Peripheral blood test results revealed a hemoglobin level of 9.1 g/dL, a platelet count of 68 × 103/μL, a white blood cell count of 2800/μL, and an absolute neutrophil count of 1.0/μL. Lactate dehydrogenase level was 202 U/L. (To convert hemoglobin to g/L, multiply by 10.0; platelets to ×109/L, by 1; white blood cell and neutrophil counts to ×109/L, by 0.001; and lactate dehydrogenase to μkat/L, by 0.0167.) A 4-mm punch biopsy was performed on the erythematous plaque on the left lower back (Figure, B and C). ### OUTPUT:
Blastic plasmacytoid dendritic cell neoplasm
['Dermatology', 'Emergency Medicine', 'Oncology', 'Hematologic Cancer', 'Hematology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 80s presented to the emergency department with a 4-week history of progressive weakness and fatigue, with associated development of purple bruiselike lesions on her head. She denied any history of trauma, falls, or occlusive headgear use. Her medical history was significant for atrial fibrillation, receiving anticoagulation medication, and heart failure. On physical examination, numerous nontender violaceous plaques were seen on the forehead and scalp of the patient (Figure, A). On full skin examination, nonspecific skin-colored plaques were noted on the chest, and a 1.8 × 2.5-cm erythematous plaque was noted on the left lower back. There was no appreciable lymphadenopathy or hepatosplenomegaly. Peripheral blood test results revealed a hemoglobin level of 9.1 g/dL, a platelet count of 68 × 103/μL, a white blood cell count of 2800/μL, and an absolute neutrophil count of 1.0/μL. Lactate dehydrogenase level was 202 U/L. (To convert hemoglobin to g/L, multiply by 10.0; platelets to ×109/L, by 1; white blood cell and neutrophil counts to ×109/L, by 0.001; and lactate dehydrogenase to μkat/L, by 0.0167.) A 4-mm punch biopsy was performed on the erythematous plaque on the left lower back (Figure, B and C). ### OUTPUT:
JAMA_FINAL54
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 47-year-old woman was seen with left-sided facial weakness and swelling for 2 months. She was diagnosed as having recurrent high-grade serous cystadenocarcinoma of the ovary and developed these symptoms after cycle 4 of chemotherapy. She was receiving oral antidiabetic agents, and her blood glucose level was 110 mg/dL (to convert to millimoles per liter, multiply by 0.0555). Physical examination findings were consistent with left lower-motor-neuron type of facial nerve palsy. She was conscious and well oriented, with no other relevant clinical signs or focal neurological deficits. There was no history of prior COVID-19 infection. Magnetic resonance imaging (MRI) of the brain was requested, with clinical suspicion of metastasis in view of mildly elevated CA125 levels. The results of MRI of the brain did not reveal any neuroparenchymal or meningeal lesions. However, both maxillary sinuses showed mucosal thickening, which was intermediate to hypointense on T2-weighted imaging and hypointense on T1-weighted imaging with postcontrast enhancement. Computed tomography sections confirmed bony destruction with foci of remodeling involving the walls of the maxillary sinuses (Figure 1). ### OUTPUT:
Invasive fungal sinusitis (mucormycosis) with perineural spread
['Oncology', 'Otolaryngology', 'Head and Neck Surgery', 'Clinical Pharmacy and Pharmacology', 'Facial Nerve']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 47-year-old man was seen with left-sided facial weakness and swelling for 2 months. He was diagnosed as having recurrent high-grade serous cystadenocarcinoma of the ovary and developed these symptoms after cycle 4 of chemotherapy. He was receiving oral antidiabetic agents, and his blood glucose level was 110 mg/dL (to convert to millimoles per liter, multiply by 0.0555). Physical examination findings were consistent with left lower-motor-neuron type of facial nerve palsy. He was conscious and well oriented, with no other relevant clinical signs or focal neurological deficits. There was no history of prior COVID-19 infection. Magnetic resonance imaging (MRI) of the brain was requested, with clinical suspicion of metastasis in view of mildly elevated CA125 levels. The results of MRI of the brain did not reveal any neuroparenchymal or meningeal lesions. However, both maxillary sinuses showed mucosal thickening, which was intermediate to hypointense on T2-weighted imaging and hypointense on T1-weighted imaging with postcontrast enhancement. Computed tomography sections confirmed bony destruction with foci of remodeling involving the walls of the maxillary sinuses (Figure 1). ### OUTPUT:
JAMA_FINAL55
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 64-year-old woman presented with diminution of vision, progressive redness, and dull aching pain in the right eye for 8 months. There was no history of trauma. Her medical history was unremarkable. On examination, her best-corrected visual acuity measured 20/60 OD and 20/25 OS. The anterior segment showed dilated corkscrew conjunctival vessels (Figure 1), a shallow anterior chamber in the right eye, and nuclear cataract in both eyes. Pupillary reaction and color vision were normal in both eyes. Intraocular pressure was 16 mm Hg by Goldman applanation tonometry in both eyes. Gonioscopy revealed an occludable angle in the right eye without evidence of blood in the Schlemm canal. Both eyes’ extraocular movements were full and free in all directions of gaze. Dilated fundus examination showed a clear vitreous cavity in the right eye, 360° serous choroidal detachment partly obscuring the optic disc nasally (Figure 1), and the fundus in the left eye was unremarkable. ### OUTPUT:
Low-flow carotid cavernous fistula
['Neurology', 'Ophthalmology', 'Carotid and Intracranial Artery Disease', 'Choroidal Disorders', 'Cerebrovascular Disease']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 64-year-old man presented with diminution of vision, progressive redness, and dull aching pain in the right eye for 8 months. There was no history of trauma. His medical history was unremarkable. On examination, his best-corrected visual acuity measured 20/60 OD and 20/25 OS. The anterior segment showed dilated corkscrew conjunctival vessels (Figure 1), a shallow anterior chamber in the right eye, and nuclear cataract in both eyes. Pupillary reaction and color vision were normal in both eyes. Intraocular pressure was 16 mm Hg by Goldman applanation tonometry in both eyes. Gonioscopy revealed an occludable angle in the right eye without evidence of blood in the Schlemm canal. Both eyes’ extraocular movements were full and free in all directions of gaze. Dilated fundus examination showed a clear vitreous cavity in the right eye, 360° serous choroidal detachment partly obscuring the optic disc nasally (Figure 1), and the fundus in the left eye was unremarkable. ### OUTPUT:
JAMA_FINAL56
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her late 60s presented to the emergency department after an episode of syncope. She described several other episodes occurring at rest over the past several weeks. She denied palpitations, chest pain, and shortness of breath. She was otherwise in excellent health and not taking any medications. She had no family history of syncope or sudden death. Her vital signs and physical examination were unremarkable. The initial electrocardiogram (ECG) results were normal, but premature ventricular contractions (PVCs) were noted on telemetry. Shortly thereafter, 2 episodes of fast polymorphic ventricular tachycardia (PVT), 30 minutes apart, were recorded, both lasting less than 4 seconds (Figure 1A). A repeat ECG showed PVCs (Figure 1B). Laboratory test results including serum potassium and magnesium as well as 3 serial troponin levels were normal. Echocardiography showed normal left ventricular systolic function without wall motion abnormalities or valvular abnormalities. Coronary angiography showed a 50% stenosis of the left circumflex artery. Instant wave-free ratio across the stenosis was 1.0. ### OUTPUT:
Short-coupled PVCs initiating PVT
['Cardiology', 'Emergency Medicine', 'Rhythm Disorders']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his late 60s presented to the emergency department after an episode of syncope. He described several other episodes occurring at rest over the past several weeks. He denied palpitations, chest pain, and shortness of breath. He was otherwise in excellent health and not taking any medications. He had no family history of syncope or sudden death. His vital signs and physical examination were unremarkable. The initial electrocardiogram (ECG) results were normal, but premature ventricular contractions (PVCs) were noted on telemetry. Shortly thereafter, 2 episodes of fast polymorphic ventricular tachycardia (PVT), 30 minutes apart, were recorded, both lasting less than 4 seconds (Figure 1A). A repeat ECG showed PVCs (Figure 1B). Laboratory test results including serum potassium and magnesium as well as 3 serial troponin levels were normal. Echocardiography showed normal left ventricular systolic function without wall motion abnormalities or valvular abnormalities. Coronary angiography showed a 50% stenosis of the left circumflex artery. Instant wave-free ratio across the stenosis was 1.0. ### OUTPUT:
JAMA_FINAL57
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 80-year-old man presented to the emergency department with a 5-day history of fever and right shoulder pain. His temperature was 37.9 °C (100.2 °F); heart rate, 74/min; and blood pressure, 90/49 mm Hg. He had tenderness to palpation and decreased range of motion of his right shoulder. Laboratory testing showed a white blood cell count of 9.6 ×  109/L (reference, 4.0-9.0 × 109/L); C-reactive protein level, 35.6 mg/dL (reference, <0.3 mg/dL), and creatine kinase level, 1036 U/L (17.30 μkat/L) (reference, 60-270 U/L [1.00-4.51 μkat/L]). Magnetic resonance imaging revealed an effusion and synovial thickening with enhancement in the right shoulder joint and inflammation in the right subscapularis muscle. Gram stain of the synovial fluid revealed gram-positive cocci in clusters. Intravenous cefazolin therapy was initiated, and he underwent right shoulder joint arthroscopic irrigation, synovectomy, and surgical drainage for subscapularis pyomyositis. Blood and synovial fluid cultures grew methicillin-susceptible Staphylococcus aureus, and intravenous cefazolin was continued. One week after hospitalization, the patient developed asymptomatic black discoloration of the dorsal surface of his tongue (Figure). He reported no prior lingual discoloration and did not smoke cigarettes, use chewing tobacco or illicit drugs, or drink alcohol. ### OUTPUT:
Black hairy tongue (lingua villosa nigra)
['Dermatology', 'Otolaryngology', 'Rheumatology', 'Dental Medicine', 'Antibiotic Use, Overuse, Resistance, Stewardship']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 80-year-old woman presented to the emergency department with a 5-day history of fever and right shoulder pain. Her temperature was 37.9 °C (100.2 °F); heart rate, 74/min; and blood pressure, 90/49 mm Hg. She had tenderness to palpation and decreased range of motion of her right shoulder. Laboratory testing showed a white blood cell count of 9.6 ×  109/L (reference, 4.0-9.0 × 109/L); C-reactive protein level, 35.6 mg/dL (reference, <0.3 mg/dL), and creatine kinase level, 1036 U/L (17.30 μkat/L) (reference, 60-270 U/L [1.00-4.51 μkat/L]). Magnetic resonance imaging revealed an effusion and synovial thickening with enhancement in the right shoulder joint and inflammation in the right subscapularis muscle. Gram stain of the synovial fluid revealed gram-positive cocci in clusters. Intravenous cefazolin therapy was initiated, and she underwent right shoulder joint arthroscopic irrigation, synovectomy, and surgical drainage for subscapularis pyomyositis. Blood and synovial fluid cultures grew methicillin-susceptible Staphylococcus aureus, and intravenous cefazolin was continued. One week after hospitalization, the patient developed asymptomatic black discoloration of the dorsal surface of her tongue (Figure). She reported no prior lingual discoloration and did not smoke cigarettes, use chewing tobacco or illicit drugs, or drink alcohol. ### OUTPUT:
JAMA_FINAL58
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 72-year-old woman was referred for an eye examination because of visual changes in the left eye. Her medical history was notable for end-stage kidney disease requiring a kidney transplant at age 50 years and a second transplant at age 65 years. She had received her medical care at outside facilities, the records of which were not available. She could not recall being given any precise diagnosis but reported having proteinuria since age 7 years. Her other medical conditions included hyperlipidemia, arterial hypertension, and pulmonary Mycobacterium avium complex infection. She was taking tacrolimus, amlodipine, atorvastatin, ethambutol, rifampin, and clarithromycin. Her family history was unremarkable. She had 2 healthy adult children. One year after the first kidney transplant, she noted an inferior visual field defect in the left eye and was diagnosed with nonarteritic anterior ischemic optic neuropathy. Several years later, she underwent uncomplicated bilateral cataract procedures. Visual acuity with distance correction was 20/25 OD and 20/30 OS. Color vision was 14/14 plates for each eye. There was a left relative afferent pupillary defect. Confrontation visual field was full for the right eye and demonstrated an inferior defect for the left eye. External and slitlamp examinations were notable only for bilateral pseudophakia. Both optic discs were anomalous in appearance, with central excavation in the left eye greater than the right eye (Figure). The remainder of the posterior pole examination, including the retinal vessels, appeared normal in both eyes. ### OUTPUT:
Papillorenal syndrome due to a PAX2 gene variant
['Chronic Kidney Disease', 'Surgery', 'Transplantation', 'Renal Replacement', 'Nephrology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 72-year-old man was referred for an eye examination because of visual changes in the left eye. His medical history was notable for end-stage kidney disease requiring a kidney transplant at age 50 years and a second transplant at age 65 years. He had received his medical care at outside facilities, the records of which were not available. He could not recall being given any precise diagnosis but reported having proteinuria since age 7 years. His other medical conditions included hyperlipidemia, arterial hypertension, and pulmonary Mycobacterium avium complex infection. He was taking tacrolimus, amlodipine, atorvastatin, ethambutol, rifampin, and clarithromycin. His family history was unremarkable. He had 2 healthy adult children. One year after the first kidney transplant, he noted an inferior visual field defect in the left eye and was diagnosed with nonarteritic anterior ischemic optic neuropathy. Several years later, he underwent uncomplicated bilateral cataract procedures. Visual acuity with distance correction was 20/25 OD and 20/30 OS. Color vision was 14/14 plates for each eye. There was a left relative afferent pupillary defect. Confrontation visual field was full for the right eye and demonstrated an inferior defect for the left eye. External and slitlamp examinations were notable only for bilateral pseudophakia. Both optic discs were anomalous in appearance, with central excavation in the left eye greater than the right eye (Figure). The remainder of the posterior pole examination, including the retinal vessels, appeared normal in both eyes. ### OUTPUT:
JAMA_FINAL59
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An otherwise healthy female patient in her late 20s was seen with a 2-year history of multiple, slowly growing, infiltrated erythematous-violaceous patches and plaques, with occasional slight pain extending from her left upper arm to the left side of her chest. No triggers, such as local infection, insect bite, or trauma, occurred before the appearance of the lesions. She denied fever, weight loss, or fatigue. Physical examination showed multiple firm, nonscaly, purple erythematous patches and plaques with irregular borders on her left axilla, medial upper arm, and lateral thoracic region (Figure, A). No extracutaneous involvement was observed. A skin biopsy specimen was obtained from the left side of her chest for histopathological examination (Figure, B and C). ### OUTPUT:
Microvenular hemangioma
['Dermatology', 'Cutaneous Vascular Malformations']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An otherwise healthy male patient in his late 20s was seen with a 2-year history of multiple, slowly growing, infiltrated erythematous-violaceous patches and plaques, with occasional slight pain extending from his left upper arm to the left side of his chest. No triggers, such as local infection, insect bite, or trauma, occurred before the appearance of the lesions. He denied fever, weight loss, or fatigue. Physical examination showed multiple firm, nonscaly, purple erythematous patches and plaques with irregular borders on his left axilla, medial upper arm, and lateral thoracic region (Figure, A). No extracutaneous involvement was observed. A skin biopsy specimen was obtained from the left side of his chest for histopathological examination (Figure, B and C). ### OUTPUT:
JAMA_FINAL60
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 5-year-old girl was referred to ophthalmology care for evaluation of nystagmus. Her medical history included esophageal atresia, small bowel obstruction, mild cognitive impairment, low tone, and increased reflexes. Prenatal history was complicated by insulin-controlled gestational diabetes and polyhydramnios. Her ocular history was notable for eye movement abnormalities since birth. She had no family history of ocular disease. On examination, her visual acuity was 20/150 OU and did not improve with correction (right eye, −1.50 [2.00] × 180; left eye, −1.00 [1.50] × 180). Pupillary responses were normal. Alternating vertical and torsional nystagmus was noted (Figure 1). Specifically, 1 eye was noted to rise and intort while the other would fall and extort, followed by reversal of the vertical and torsional components in the opposite eye (Video). The optic nerve and foveal reflexes were normal in both eyes. Flash visual evoked potential (VEP) demonstrated strong ipsilateral activity of the occipital lobe. Results of a previously obtained brain magnetic resonance imaging (MRI) scan were reported as normal. ### OUTPUT:
Achiasma with seesaw nystagmus
['Neuro-ophthalmology', 'Pediatrics', 'Ophthalmology', 'Neurology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 5-year-old boy was referred to ophthalmology care for evaluation of nystagmus. His medical history included esophageal atresia, small bowel obstruction, mild cognitive impairment, low tone, and increased reflexes. Prenatal history was complicated by insulin-controlled gestational diabetes and polyhydramnios. His ocular history was notable for eye movement abnormalities since birth. He had no family history of ocular disease. On examination, his visual acuity was 20/150 OU and did not improve with correction (right eye, −1.50 [2.00] × 180; left eye, −1.00 [1.50] × 180). Pupillary responses were normal. Alternating vertical and torsional nystagmus was noted (Figure 1). Specifically, 1 eye was noted to rise and intort while the other would fall and extort, followed by reversal of the vertical and torsional components in the opposite eye (Video). The optic nerve and foveal reflexes were normal in both eyes. Flash visual evoked potential (VEP) demonstrated strong ipsilateral activity of the occipital lobe. Results of a previously obtained brain magnetic resonance imaging (MRI) scan were reported as normal. ### OUTPUT:
JAMA_FINAL61
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 28-year-old woman presented to the emergency department with a 5-day history of bilateral blurry vision, eye redness, discharge, photophobia, and pain. She also reported rhinorrhea and lethargy. Her medical history included Leber congenital amaurosis treated with voretigene neparvovec (Luxturna; Spark Therapeutics) 8 years ago, and acute myeloid leukemia (AML) diagnosed 6 months prior to presentation treated with cytarabine and idarubicin. Her latest chemotherapy was 3 weeks before presentation, and a peripherally inserted central catheter (PICC) was removed 2 weeks ago. A complete blood cell count was ordered, revealing anemia, neutropenia, lymphocytopenia, and monocytopenia in the setting of recent chemotherapy. Blood cultures were drawn, and results were pending at the time of presentation. Her ophthalmic examination showed visual acuity of 20/800 OD and 20/400 OS, decreased from her baseline of 20/200 OU. Intraocular pressures were 37 mm Hg OD and 31 mm Hg OS. Slitlamp examination revealed chemosis, conjunctival hyperemia, and microcystic corneal edema bilaterally. There were more than 20 cells per high-power field of 1 mm × 1 mm beam, with fibrin bilaterally and 2.5-mm hypopyon in the right eye and 2.7-mm hypopyon in the left eye (Figure 1). Posterior segment examination was limited because of corneal edema and anterior inflammation, but there were no vitreous opacities on B-scan ultrasonography. ### OUTPUT:
Bilateral anterior uveitis with pseudohypopyon in the setting of AML infiltration
['Hematology', 'Oncology', 'Ophthalmology', 'Hematologic Cancer', 'Leukemias']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 28-year-old man presented to the emergency department with a 5-day history of bilateral blurry vision, eye redness, discharge, photophobia, and pain. He also reported rhinorrhea and lethargy. His medical history included Leber congenital amaurosis treated with voretigene neparvovec (Luxturna; Spark Therapeutics) 8 years ago, and acute myeloid leukemia (AML) diagnosed 6 months prior to presentation treated with cytarabine and idarubicin. His latest chemotherapy was 3 weeks before presentation, and a peripherally inserted central catheter (PICC) was removed 2 weeks ago. A complete blood cell count was ordered, revealing anemia, neutropenia, lymphocytopenia, and monocytopenia in the setting of recent chemotherapy. Blood cultures were drawn, and results were pending at the time of presentation. His ophthalmic examination showed visual acuity of 20/800 OD and 20/400 OS, decreased from his baseline of 20/200 OU. Intraocular pressures were 37 mm Hg OD and 31 mm Hg OS. Slitlamp examination revealed chemosis, conjunctival hyperemia, and microcystic corneal edema bilaterally. There were more than 20 cells per high-power field of 1 mm × 1 mm beam, with fibrin bilaterally and 2.5-mm hypopyon in the right eye and 2.7-mm hypopyon in the left eye (Figure 1). Posterior segment examination was limited because of corneal edema and anterior inflammation, but there were no vitreous opacities on B-scan ultrasonography. ### OUTPUT:
JAMA_FINAL62
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 95-year-old woman presented to the emergency department with 24 hours of abdominal pain, 2 weeks of diarrhea, and 3 months of intermittent abdominal bloating and anorexia. She was a farmer in rural Japan who did not drink alcohol and had been diagnosed with bullous pemphigoid 8 months prior, initially treated with prednisolone (15 mg daily). Her medications at presentation were prednisolone (8 mg daily) and lansoprazole. She had experienced 1 episode of dyspnea on exertion 2 weeks before presentation but reported no fevers, cough, wheeze, nausea or vomiting, hematochezia, or melena. In the emergency department, her temperature was 37.7 °C (99.9 °F); blood pressure, 110/56 mm Hg; heart rate, 125/min; and oxygen saturation, 95% on room air. On physical examination her lungs were clear to auscultation, and her abdomen was diffusely tender to palpation without rebound. Skin examination revealed purpuric macules and small thumbprint-like patches on the upper abdomen and central chest (Figure 1). ### OUTPUT:
Disseminated strongyloidiasis
['Global Health', 'Infectious Diseases', 'Dermatology', 'Gastroenterology', 'Gastroenterology and Hepatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 95-year-old man presented to the emergency department with 24 hours of abdominal pain, 2 weeks of diarrhea, and 3 months of intermittent abdominal bloating and anorexia. He was a farmer in rural Japan who did not drink alcohol and had been diagnosed with bullous pemphigoid 8 months prior, initially treated with prednisolone (15 mg daily). His medications at presentation were prednisolone (8 mg daily) and lansoprazole. He had experienced 1 episode of dyspnea on exertion 2 weeks before presentation but reported no fevers, cough, wheeze, nausea or vomiting, hematochezia, or melena. In the emergency department, his temperature was 37.7 °C (99.9 °F); blood pressure, 110/56 mm Hg; heart rate, 125/min; and oxygen saturation, 95% on room air. On physical examination his lungs were clear to auscultation, and his abdomen was diffusely tender to palpation without rebound. Skin examination revealed purpuric macules and small thumbprint-like patches on the upper abdomen and central chest (Figure 1). ### OUTPUT:
JAMA_FINAL63
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 7-year-old girl was referred to the otolaryngology clinic by her pediatrician for a left pharyngeal lesion. Her parents noted the lesion 18 months prior. It remained stable in size and was asymptomatic. She denied sore throat, dysphagia, and dyspnea. She was otherwise healthy with no history of recurrent pharyngitis. On examination, her vital signs were within normal limits. She was comfortable with no noted stridor and tolerated her oral secretions. Her oropharyngeal examination was notable for size 2+ palatine tonsils without exudate and a white mass on the posterior tonsillar pillar. She did not tolerate palpation of the lesion. There was no palpable cervical adenopathy, and her lungs were clear to auscultation. No laboratory work or imaging were performed. The patient was taken to the operating room for an excisional biopsy. There, a more thorough gross examination of the lesion was notable for a pedunculated, white rubbery mass arising from the left posterior tonsillar pillar with a narrow mucosal stalk (Figure, A). ### OUTPUT:
Hairy pharyngeal polyp
['Otolaryngology', 'Pediatrics']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 7-year-old boy was referred to the otolaryngology clinic by his pediatrician for a left pharyngeal lesion. His parents noted the lesion 18 months prior. It remained stable in size and was asymptomatic. He denied sore throat, dysphagia, and dyspnea. He was otherwise healthy with no history of recurrent pharyngitis. On examination, his vital signs were within normal limits. He was comfortable with no noted stridor and tolerated his oral secretions. His oropharyngeal examination was notable for size 2+ palatine tonsils without exudate and a white mass on the posterior tonsillar pillar. He did not tolerate palpation of the lesion. There was no palpable cervical adenopathy, and his lungs were clear to auscultation. No laboratory work or imaging were performed. The patient was taken to the operating room for an excisional biopsy. There, a more thorough gross examination of the lesion was notable for a pedunculated, white rubbery mass arising from the left posterior tonsillar pillar with a narrow mucosal stalk (Figure, A). ### OUTPUT:
JAMA_FINAL64
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 74-year-old man with a history of multiple squamous cell carcinomas that were treated with Mohs micrographic surgery presented with a tender, enlarging scalp lesion of 6 months’ duration. Skin examination revealed a 5-mm bright pink, dome-shaped papule with overlying vessels located at the crown of the scalp (Figure, A). There was no purulent discharge or overlying skin changes. A shave skin biopsy was performed and submitted for histopathologic analysis (Figure, B-D). ### OUTPUT:
Malignant myopericytoma
['Dermatology', 'Skin Cancer']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 74-year-old woman with a history of multiple squamous cell carcinomas that were treated with Mohs micrographic surgery presented with a tender, enlarging scalp lesion of 6 months’ duration. Skin examination revealed a 5-mm bright pink, dome-shaped papule with overlying vessels located at the crown of the scalp (Figure, A). There was no purulent discharge or overlying skin changes. A shave skin biopsy was performed and submitted for histopathologic analysis (Figure, B-D). ### OUTPUT:
JAMA_FINAL65
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his late 50s was released from a tertiary hospital with an anterior ST-elevation myocardial infarction and cardiogenic shock with onset 6 days before admission. On admission, vital signs showed blood pressure as 98/66 mm Hg while receiving dobutamine and norepinephrine from the referral hospital, a regular heart rate of 90 beats per minute, a respiratory rate of 22 breaths per minute, peripheral oxygen saturation 96% nasal oxygen at 3 L per minute, and a temperature of 36.7° C. Echocardiography showed reduced left ventricle systolic function (estimated ejection fraction, 34%) and hypokinesia of the anteroseptal, anterior, anterolateral, and septal walls. Lung ultrasound demonstrated multiple B-lines in both lung fields. Diagnostic coronary angiography revealed a total occlusion in the left main coronary artery. Percutaneous coronary intervention (PCI) was successful in opening the osteal left main and drug-eluting stents were placed in the left main and left anterior descending arteries. Following PCI, the patient had episodes of supraventricular tachycardia and atrial fibrillation with a rapid ventricular response. Electrical cardioversion was performed and a loading dose of amiodarone was administered. Chest radiography during the loading dose of amiodarone showed infiltrates in both lung fields (Figure 1A). While in the intensive cardiovascular care unit, maintenance doses of amiodarone were continued because of episodes of paroxysmal supraventricular tachycardia, ventricular tachycardia, and torsaded de pointes. On the third day of hospitalization, despite adequate diuresis, the chest radiography showed persistent pulmonary edema. Chest computed tomography showed a reticular pattern predominantly in the perihilar area with consolidation and diffuse ground-glass opacity in both lung fields (Figure 1B). In addition, hemodynamic evaluation and lung ultrasound showed no congestion and laboratory markers, including a procalcitonin level of 0.01 ng/mL, and ruled out an infectious etiology. ### OUTPUT:
Acute amiodarone-induced pulmonary toxicity
['Clinical Pharmacy and Pharmacology', 'Pulmonary Medicine', 'Adverse Drug Events', 'Rhythm Disorders', 'Ischemic Heart Disease']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her late 50s was released from a tertiary hospital with an anterior ST-elevation myocardial infarction and cardiogenic shock with onset 6 days before admission. On admission, vital signs showed blood pressure as 98/66 mm Hg while receiving dobutamine and norepinephrine from the referral hospital, a regular heart rate of 90 beats per minute, a respiratory rate of 22 breaths per minute, peripheral oxygen saturation 96% nasal oxygen at 3 L per minute, and a temperature of 36.7° C. Echocardiography showed reduced left ventricle systolic function (estimated ejection fraction, 34%) and hypokinesia of the anteroseptal, anterior, anterolateral, and septal walls. Lung ultrasound demonstrated multiple B-lines in both lung fields. Diagnostic coronary angiography revealed a total occlusion in the left main coronary artery. Percutaneous coronary intervention (PCI) was successful in opening the osteal left main and drug-eluting stents were placed in the left main and left anterior descending arteries. Following PCI, the patient had episodes of supraventricular tachycardia and atrial fibrillation with a rapid ventricular response. Electrical cardioversion was performed and a loading dose of amiodarone was administered. Chest radiography during the loading dose of amiodarone showed infiltrates in both lung fields (Figure 1A). While in the intensive cardiovascular care unit, maintenance doses of amiodarone were continued because of episodes of paroxysmal supraventricular tachycardia, ventricular tachycardia, and torsades de pointes. On the third day of hospitalization, despite adequate diuresis, the chest radiography showed persistent pulmonary edema. Chest computed tomography showed a reticular pattern predominantly in the perihilar area with consolidation and diffuse ground-glass opacity in both lung fields (Figure 1B). In addition, hemodynamic evaluation and lung ultrasound showed no congestion and laboratory markers, including a procalcitonin level of 0.01 ng/mL, and ruled out an infectious etiology. ### OUTPUT:
JAMA_FINAL66
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A patient in their mid-30s with a medical history of deceased donor kidney transplant, cytomegalovirus (CMV) colitis, and CMV viremia with documented resistance to foscarnet and ganciclovir (UL97 and UL54 gene mutations) presented with new-onset floaters in both eyes. The patient was taking systemic immunosuppression but recently stopped taking maribavir because of concerns about resistance and was transitioned to cidofovir and CMV immune globulin. On clinical examination, the visual acuity measured 20/25 OD and 20/20 OS. Motility, visual fields, and anterior segment examination were normal. Dilated fundus examination revealed tortuous vasculature, multiple cotton wool spots along the arcades and periphery, and granular, hypopigmented retinal lesions without hemorrhage in the macula and temporal periphery in both eyes (Figure 1A). Optical coherence tomography showed localized areas of full-thickness retinitis (Figure 1B). CMV titers indicated viremia at 2.24 million IU/mL. Despite the patient’s documented UL97 and UL54 mutations, a series of 5 biweekly intravitreal injections of foscarnet and ganciclovir were performed given their vision-threatening lesions. Retinal pathology failed to improve, and the patient eventually refused additional intravitreal therapy because of pain and transiently decreased vision after each injection. ### OUTPUT:
UL97- and UL54-resistant CMV retinitis
['Ophthalmology', 'Infectious Diseases', 'Surgery', 'Transplantation', 'Renal Replacement']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A patient in their mid-30s with a medical history of deceased donor kidney transplant, cytomegalovirus (CMV) colitis, and CMV viremia with documented resistance to foscarnet and ganciclovir (UL97 and UL54 gene mutations) presented with new-onset floaters in both eyes. The patient was taking systemic immunosuppression but recently stopped taking maribavir because of concerns about resistance and was transitioned to cidofovir and CMV immune globulin. On clinical examination, the visual acuity measured 20/25 OD and 20/20 OS. Motility, visual fields, and anterior segment examination were normal. Dilated fundus examination revealed tortuous vasculature, multiple cotton wool spots along the arcades and periphery, and granular, hypopigmented retinal lesions without hemorrhage in the macula and temporal periphery in both eyes (Figure 1A). Optical coherence tomography showed localized areas of full-thickness retinitis (Figure 1B). CMV titers indicated viremia at 2.24 million IU/mL. Despite the patient’s documented UL97 and UL54 mutations, a series of 5 biweekly intravitreal injections of foscarnet and ganciclovir were performed given their vision-threatening lesions. Retinal pathology failed to improve, and the patient eventually refused additional intravitreal therapy because of pain and transiently decreased vision after each injection. ### OUTPUT:
JAMA_FINAL67
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 42-year-old man with hypertension, type 2 diabetes diagnosed at age 25 years, and gastroparesis presented to the emergency department with right lower extremity blisters that had developed spontaneously over the prior 36 hours. He reported a tingling sensation in the affected area but no pruritus or pain. He had no history of leg trauma and no chemical or extreme temperature exposure. Medications included insulin lispro (sliding scale 3 times daily) and insulin glargine (20 units nightly). On physical examination, he was afebrile and had normal vital signs. His extremities were warm with palpable distal pulses. Hyperpigmented macules were present on the anterior lower legs below the knees, and tense bullae were present on the anterior aspect of the right lower extremity, dorsal foot surface, and toes (Figure). There was no surrounding erythema or edema, and findings on the remainder of the skin and mucocutaneous examination were unremarkable. Laboratory testing revealed a blood glucose level of 375 mg/dL (20.81 mmol/L) and hemoglobin A1c level of 9.8%. Results of a basic metabolic panel and complete blood cell count were within reference range except for mild anemia (hemoglobin level, 10.9 g/dL). ### OUTPUT:
Bullosis diabeticorum
['Dermatology', 'Diabetes', 'Diabetes and Endocrinology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 42-year-old woman with hypertension, type 2 diabetes diagnosed at age 25 years, and gastroparesis presented to the emergency department with right lower extremity blisters that had developed spontaneously over the prior 36 hours. She reported a tingling sensation in the affected area but no pruritus or pain. She had no history of leg trauma and no chemical or extreme temperature exposure. Medications included insulin lispro (sliding scale 3 times daily) and insulin glargine (20 units nightly). On physical examination, she was afebrile and had normal vital signs. Her extremities were warm with palpable distal pulses. Hyperpigmented macules were present on the anterior lower legs below the knees, and tense bullae were present on the anterior aspect of the right lower extremity, dorsal foot surface, and toes (Figure). There was no surrounding erythema or edema, and findings on the remainder of the skin and mucocutaneous examination were unremarkable. Laboratory testing revealed a blood glucose level of 375 mg/dL (20.81 mmol/L) and hemoglobin A1c level of 9.8%. Results of a basic metabolic panel and complete blood cell count were within reference range except for mild anemia (hemoglobin level, 10.9 g/dL). ### OUTPUT:
JAMA_FINAL68
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 61-year-old Black man with hypertension and diabetes presented with decreased vision 3 months after uneventful cataract surgery in his left eye. He had undergone laser retinopexy for retinal tears in his right eye and a scleral buckle and vitrectomy for a retinal detachment in his left eye 1 year earlier. Best-corrected visual acuity (BCVA) was 20/40 OD and counting fingers OS. Intraocular pressure (IOP) was 14 mm Hg in the right eye and 44 mm Hg in the left eye. Anterior segment examination of the right eye was unremarkable, while ophthalmoscopic examination showed vascular attenuation and treated retinal breaks. In the left eye, microcystic corneal edema and Descemet membrane folds limited examination, but no residual lenticular fragments or neovascularization of the iris or angle were seen. The patient was discharged taking timolol, dorzolamide, brimonidine, and prednisolone. Twelve days later, the cornea had cleared and IOP in the left eye improved to 32 mm Hg. Gonioscopy revealed 360° of anterior synechiae and complete angle closure, which was documented on ultrasound biomicroscopy (Figure 1). The patient started treatment with 500 mg of acetazolamide daily and referred to the glaucoma service for surgical evaluation. ### OUTPUT:
Acute chest syndrome induced by acetazolamide in a patient with previously undiagnosed sickle cell disease.
['Glaucoma', 'Hematology', 'Ophthalmology', 'Sickle Cell Disease', 'Emergency Medicine']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 61-year-old Black woman with hypertension and diabetes presented with decreased vision 3 months after uneventful cataract surgery in her left eye. She had undergone laser retinopexy for retinal tears in her right eye and a scleral buckle and vitrectomy for a retinal detachment in her left eye 1 year earlier. Best-corrected visual acuity (BCVA) was 20/40 OD and counting fingers OS. Intraocular pressure (IOP) was 14 mm Hg in the right eye and 44 mm Hg in the left eye. Anterior segment examination of the right eye was unremarkable, while ophthalmoscopic examination showed vascular attenuation and treated retinal breaks. In the left eye, microcystic corneal edema and Descemet membrane folds limited examination, but no residual lenticular fragments or neovascularization of the iris or angle were seen. The patient was discharged taking timolol, dorzolamide, brimonidine, and prednisolone. Twelve days later, the cornea had cleared and IOP in the left eye improved to 32 mm Hg. Gonioscopy revealed 360° of anterior synechiae and complete angle closure, which was documented on ultrasound biomicroscopy (Figure 1). The patient started treatment with 500 mg of acetazolamide daily and referred to the glaucoma service for surgical evaluation. ### OUTPUT:
JAMA_FINAL70
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 11-year-old girl with no significant medical history was referred to the pediatric otolaryngology department for a painless, left-sided neck mass that had been slowly enlarging for 8 months. On examination, there was an easily palpable 3-cm firm, fixed, well-circumscribed left supraclavicular mass without overlying skin changes or cutaneous involvement. She had no other masses, cervical lymphadenopathy, or systemic symptoms. In workup for this mass, she initially underwent ultrasound imaging, which demonstrated a hypoechoic mass. Findings from fine-needle aspiration and core-needle biopsy were inconclusive, demonstrating histiocytes. Magnetic resonance imaging demonstrated a well-circumscribed mass of mainly soft tissue density with contrast enhancement (Figure 1). ### OUTPUT:
Soft tissue aneurysmal bone cyst
['Oncology', 'Pediatrics', 'Soft-Tissue Tumors']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 11-year-old boy with no significant medical history was referred to the pediatric otolaryngology department for a painless, left-sided neck mass that had been slowly enlarging for 8 months. On examination, there was an easily palpable 3-cm firm, fixed, well-circumscribed left supraclavicular mass without overlying skin changes or cutaneous involvement. He had no other masses, cervical lymphadenopathy, or systemic symptoms. In workup for this mass, he initially underwent ultrasound imaging, which demonstrated a hypoechoic mass. Findings from fine-needle aspiration and core-needle biopsy were inconclusive, demonstrating histiocytes. Magnetic resonance imaging demonstrated a well-circumscribed mass of mainly soft tissue density with contrast enhancement (Figure 1). ### OUTPUT:
JAMA_FINAL71
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 72-year-old male patient presented with 2 days of conjunctival injection in the right eye, chemosis, eyelid edema, and pain with eye movements. His medical history included hypothyroidism, psoriasis, and recent diagnosis of multiple myeloma, and he was taking daratumumab and zoledronic acid. He denied eye trauma, dental surgery, or sinus disease. Examination of the right eye was notable for visual acuity of 20/50, reduced ocular motility in all gazes, proptosis, and chemosis. There was no afferent pupillary defect. Examination of the left eye was unremarkable. Computed tomography of the orbits with contrast demonstrated right preseptal edema and intraorbital fat stranding of the extraconal and intraconal fat without sinus disease. Nasal endoscopy performed by the otolaryngology service showed no evidence of invasive fungal sinusitis. The patient received a single dose of intravenous vancomycin and ceftriaxone, then was transitioned to ampicillin-sulbactam for presumed orbital cellulitis. After 48 hours, motility, proptosis, and chemosis worsened (Figure 1A). ### OUTPUT:
Zoledronic acid-induced orbital inflammation
['Clinical Pharmacy and Pharmacology', 'Orbit', 'Adverse Drug Events', 'Hematologic Cancer', 'Myeloma']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 72-year-old female patient presented with 2 days of conjunctival injection in the right eye, chemosis, eyelid edema, and pain with eye movements. Her medical history included hypothyroidism, psoriasis, and recent diagnosis of multiple myeloma, and she was taking daratumumab and zoledronic acid. She denied eye trauma, dental surgery, or sinus disease. Examination of the right eye was notable for visual acuity of 20/50, reduced ocular motility in all gazes, proptosis, and chemosis. There was no afferent pupillary defect. Examination of the left eye was unremarkable. Computed tomography of the orbits with contrast demonstrated right preseptal edema and intraorbital fat stranding of the extraconal and intraconal fat without sinus disease. Nasal endoscopy performed by the otolaryngology service showed no evidence of invasive fungal sinusitis. The patient received a single dose of intravenous vancomycin and ceftriaxone, then was transitioned to ampicillin-sulbactam for presumed orbital cellulitis. After 48 hours, motility, proptosis, and chemosis worsened (Figure 1A). ### OUTPUT:
JAMA_FINAL72
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 7-year-old boy presented with a slowly growing, asymptomatic lump on his left lower neck since birth. His parents denied any medical history of trauma, infection, or surgery. Physical examination showed a 1.3 × 0.7 × 0.6 cm, yellowish, hump-like mass with hairy surface and cartilage-like consistency on the anterior border of the lower third of the left sternocleidomastoid muscle (SCM) (Figure, A). No other anomalies were observed. Ultrasonography revealed a 1.2 × 1.0 × 0.9 cm, hypoechoic, avascular, bulging nodule with an anechoic tubular structure extending to the subcutaneous fat and reaching the surface of the muscular layer. Magnetic resonance imaging (MRI) demonstrated a protuberant nodule with diffuse, slight hyperintensity on T1WI; and 2 mild hyperintense foci surrounded by hypointense tissue on fat-suppressed T2WI (Figure, B). The neck mass was completely excised under general anesthesia in the department of pediatric surgery. Intraoperatively, the mass extended into the anteromedial fascia of the left SCM and did not involve the deeper neck structures. Postoperative histopathologic analysis showed normal-appearing epidermis, multiple pilosebaceous follicles, abundant adipose tissue, and 2 centrally circumscribed segments of cartilage in the subcutis (Figure, C). Van Gieson stain highlighted elastic fibers surrounding individual chondrocytes. ### OUTPUT:
Cervical chondrocutaneous branchial remnant
['Otolaryngology', 'Pediatrics', 'Head and Neck Surgery']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 7-year-old girl presented with a slowly growing, asymptomatic lump on her left lower neck since birth. Her parents denied any medical history of trauma, infection, or surgery. Physical examination showed a 1.3 × 0.7 × 0.6 cm, yellowish, hump-like mass with hairy surface and cartilage-like consistency on the anterior border of the lower third of the left sternocleidomastoid muscle (SCM) (Figure, A). No other anomalies were observed. Ultrasonography revealed a 1.2 × 1.0 × 0.9 cm, hypoechoic, avascular, bulging nodule with an anechoic tubular structure extending to the subcutaneous fat and reaching the surface of the muscular layer. Magnetic resonance imaging (MRI) demonstrated a protuberant nodule with diffuse, slight hyperintensity on T1WI; and 2 mild hyperintense foci surrounded by hypointense tissue on fat-suppressed T2WI (Figure, B). The neck mass was completely excised under general anesthesia in the department of pediatric surgery. Intraoperatively, the mass extended into the anteromedial fascia of the left SCM and did not involve the deeper neck structures. Postoperative histopathologic analysis showed normal-appearing epidermis, multiple pilosebaceous follicles, abundant adipose tissue, and 2 centrally circumscribed segments of cartilage in the subcutis (Figure, C). Van Gieson stain highlighted elastic fibers surrounding individual chondrocytes. ### OUTPUT:
JAMA_FINAL73
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her late 40s was admitted to the hospital with a 40-year history of multiple hard nodules on the scalp. At 5 years of age, the patient had developed multiple subcutaneous masses in the occipital and bilateral temporal regions. At age 10, she was diagnosed with neurofibromatosis and underwent surgical resection of the tumors at a local hospital. Tumors recurred 5 years after surgery, with their size and number gradually increasing with age. Physical examination revealed scalp masses from 4 to 6 cm in diameter, with hard textures and smooth surfaces (Figure, A), and subcutaneous nodules of 1 × 1 cm to 2 × 2 cm with hard textures on the hands (Figure, B), feet, trunk, and lower extremities. The patient had no tenderness, swelling, or other skin manifestations. The patient had consanguineous parents, but no other family member, including her children, had the disease. ### OUTPUT:
Juvenile hyaline fibromatosis
['Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his late 40s was admitted to the hospital with a 40-year history of multiple hard nodules on the scalp. At 5 years of age, the patient had developed multiple subcutaneous masses in the occipital and bilateral temporal regions. At age 10, he was diagnosed with neurofibromatosis and underwent surgical resection of the tumors at a local hospital. Tumors recurred 5 years after surgery, with their size and number gradually increasing with age. Physical examination revealed scalp masses from 4 to 6 cm in diameter, with hard textures and smooth surfaces (Figure, A), and subcutaneous nodules of 1 × 1 cm to 2 × 2 cm with hard textures on the hands (Figure, B), feet, trunk, and lower extremities. The patient had no tenderness, swelling, or other skin manifestations. The patient had consanguineous parents, but no other family member, including his children, had the disease. ### OUTPUT:
JAMA_FINAL74
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her mid-20s was evaluated for a history of dyspnea on exertion for 2 years. On physical examination, her pulse was 70 beats per minute, and blood pressure was 110/70 mm Hg. The cardiovascular examination showed a loud S1, normal S2, and an opening snap along with a mid-diastolic, soft, rumbling murmur at the apex of the heart. The electrocardiogram showed normal sinus rhythm with left atrial enlargement. The echocardiogram showed severe mitral stenosis with a mitral valve area of 0.9 cm2 with a mean (SD) gradient of 20 (4) mm Hg. There was no evidence of any subvalvular thickening, leaflet calcification, or mitral regurgitation. The patient was taken for balloon mitral valvotomy (BMV). A 6F pigtail catheter was placed in the left ventricle via the right femoral artery. The interatrial septum was punctured using a Mullins sheath and Brockenbrough needle via the right femoral vein. Entry into the left atrium was made and confirmed with a dye injection. However, suddenly, the patient developed acute onset of dyspnea along with retrosternal chest pain. Her blood pressure at the time of the event was 100/60 mm Hg, pulse was 70 beats per minute, and oxygen saturation was 96%. The catheter was pulled back into the right atrium, and chest fluoroscopy was performed (Figure; Video). ### OUTPUT:
Air embolism in main pulmonary
['Valvular Heart Disease', 'Cardiology', 'Health Care Safety']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his mid-20s was evaluated for a history of dyspnea on exertion for 2 years. On physical examination, his pulse was 70 beats per minute, and blood pressure was 110/70 mm Hg. The cardiovascular examination showed a loud S1, normal S2, and an opening snap along with a mid-diastolic, soft, rumbling murmur at the apex of the heart. The electrocardiogram showed normal sinus rhythm with left atrial enlargement. The echocardiogram showed severe mitral stenosis with a mitral valve area of 0.9 cm2 with a mean (SD) gradient of 20 (4) mm Hg. There was no evidence of any subvalvular thickening, leaflet calcification, or mitral regurgitation. The patient was taken for balloon mitral valvotomy (BMV). A 6F pigtail catheter was placed in the left ventricle via the right femoral artery. The interatrial septum was punctured using a Mullins sheath and Brockenbrough needle via the right femoral vein. Entry into the left atrium was made and confirmed with a dye injection. However, suddenly, the patient developed acute onset of dyspnea along with retrosternal chest pain. His blood pressure at the time of the event was 100/60 mm Hg, pulse was 70 beats per minute, and oxygen saturation was 96%. The catheter was pulled back into the right atrium, and chest fluoroscopy was performed (Figure; Video). ### OUTPUT:
JAMA_FINAL75
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 80s initially presented with numerous, primarily photodistributed, crusted, and ulcerated plaques of the trunk and extremities. She had a medical history of essential thrombocytosis (ET), which was treated with hydroxyurea for 14 years, with a total cumulative dose of approximately 2500 g. She was otherwise reasonably well and denied any other constitutional symptoms. The ulcerations had slowly increased in number and size over several years and were quite painful (Figure, A-C). She did have a medical history of nonmelanoma skin cancer (NMSCa), which had previously been treated surgically. Several tangential shave biopsies were performed to help clarify the patient’s diagnosis. ### OUTPUT:
Hydroxyurea-induced squamous dysplasia
['Cutaneous Drug Reactions', 'Clinical Pharmacy and Pharmacology', 'Hematology', 'Adverse Drug Events', 'Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 80s initially presented with numerous, primarily photodistributed, crusted, and ulcerated plaques of the trunk and extremities. He had a medical history of essential thrombocytosis (ET), which was treated with hydroxyurea for 14 years, with a total cumulative dose of approximately 2500 g. He was otherwise reasonably well and denied any other constitutional symptoms. The ulcerations had slowly increased in number and size over several years and were quite painful (Figure, A-C). He did have a medical history of nonmelanoma skin cancer (NMSCa), which had previously been treated surgically. Several tangential shave biopsies were performed to help clarify the patient’s diagnosis. ### OUTPUT:
JAMA_FINAL76
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 56-year-old woman presented at the clinic for follow-up of metastatic hormone receptor–positive, ERBB2-negative breast cancer. She had locally advanced disease that was invading the skin overlying her right breast and metastatic disease to the thoracic and lumbar spine, liver, and mediastinal, axillary, and retroperitoneal lymph nodes. Her disease had progressed after receiving first-line therapy with palbociclib and anastrozole. Subsequent treatments with fulvestrant and paclitaxel were also followed by progressive disease. She received treatment with capecitabine; after 6 weeks of treatment, she developed some redness on her hands and feet that resolved on its own. She then presented to the clinic with pruritic, erythematous, scaly macules and papules on her forearms, faces, chest, and upper back (Figure). The rash had been present for 3 weeks and had recently worsened. Her palms and soles were spared. The rash did not respond to treatment with topical clindamycin, oral solumedrol, or doxycycline. She had a history of substantial sun exposure but no history of skin cancer. ### OUTPUT:
Inflammation of actinic keratoses
['Dermatology', 'Cutaneous Drug Reactions', 'Breast Cancer', 'Oncology', "Women's Health"]
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 56-year-old man presented at the clinic for follow-up of metastatic hormone receptor–positive, ERBB2-negative breast cancer. He had locally advanced disease that was invading the skin overlying his right breast and metastatic disease to the thoracic and lumbar spine, liver, and mediastinal, axillary, and retroperitoneal lymph nodes. His disease had progressed after receiving first-line therapy with palbociclib and anastrozole. Subsequent treatments with fulvestrant and paclitaxel were also followed by progressive disease. He received treatment with capecitabine; after 6 weeks of treatment, he developed some redness on his hands and feet that resolved on its own. He then presented to the clinic with pruritic, erythematous, scaly macules and papules on his forearms, face, chest, and upper back (Figure). The rash had been present for 3 weeks and had recently worsened. His palms and soles were spared. The rash did not respond to treatment with topical clindamycin, oral solumedrol, or doxycycline. He had a history of substantial sun exposure but no history of skin cancer. ### OUTPUT:
JAMA_FINAL77
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An 81-year-old woman was referred to our service for assessment of 3 darkly pigmented corneal lesions (Figure 1A). Two years ago, she underwent uncomplicated right cataract surgery at a different center. Her postoperative course had been complicated by persistent low-grade anterior uveitis for which she received maintenance loteprednol, 0.5%, eye drops on alternate days. She also used latanoprost eye drops at night in both eyes for primary open-angle glaucoma. Her medical history was only significant for hypertension, which was well controlled with ramipril. She denied any ocular trauma or recent travel outside of the country. Review of systems was unremarkable. ### OUTPUT:
Dematiaceous fungal keratitis
['Cornea', 'Fungal Infections', 'Infectious Diseases', 'Ophthalmology', 'Cataract and Other Lens Disorders']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: Final diagnosis: Dematiaceous fungal keratitis. Case report: An 81-year-old man was referred to our service for assessment of 3 darkly pigmented corneal lesions (Figure 1A). Two years ago, he underwent uncomplicated right cataract surgery at a different center. His postoperative course had been complicated by persistent low-grade anterior uveitis for which he received maintenance loteprednol, 0.5%, eye drops on alternate days. He also used latanoprost eye drops at night in both eyes for primary open-angle glaucoma. His medical history was only significant for hypertension, which was well controlled with ramipril. He denied any ocular trauma or recent travel outside of the country. Review of systems was unremarkable. ### OUTPUT:
JAMA_FINAL78
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 60s presented for evaluation of a new pruritic rash. The rash initially developed on the patient’s legs 13 days before presentation and subsequently progressed to her feet, arms, hands, and trunk. Associated symptoms included a burning sensation and occasional pain. Her medical history was notable for endometrial adenocarcinoma status post hysterectomy and recent postoperative radiotherapy (total of 50.4 Gy in 28 fractioned doses), which was completed 4 days after the onset of the rash. She denied any new medications or exposure to chemotherapy, imaging with intravenous contrast, or recent travel. The remainder of her review of systems was unremarkable. On physical examination, there were numerous erythematous edematous coalescing papules and plaques on the upper and lower extremities and scattered erythematous papules and plaques on the back and buttocks (Figure, A). Some plaques were annular and polycyclic in configuration, with central hyperpigmentation (Figure, B). Her chest, abdomen, face, and oral mucosa were clear. A complete blood cell count was notable for an eosinophilia of 11%, with an absolute cell count of 0.80 ×103/uL. Results from a comprehensive metabolic panel were normal. A biopsy was performed on her right thigh for histopathological examination. ### OUTPUT:
Eosinophilic, polymorphic, and pruritic eruption associated with radiotherapy (EPPER)
['Radiation Oncology', 'Dermatology', 'Endometrial Cancer', 'Oncology', 'Gynecologic Cancer']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 60s presented for evaluation of a new pruritic rash. The rash initially developed on the patient’s legs 13 days before presentation and subsequently progressed to his feet, arms, hands, and trunk. Associated symptoms included a burning sensation and occasional pain. His medical history was notable for endometrial adenocarcinoma status post hysterectomy and recent postoperative radiotherapy (total of 50.4 Gy in 28 fractioned doses), which was completed 4 days after the onset of the rash. He denied any new medications or exposure to chemotherapy, imaging with intravenous contrast, or recent travel. The remainder of his review of systems was unremarkable. On physical examination, there were numerous erythematous edematous coalescing papules and plaques on the upper and lower extremities and scattered erythematous papules and plaques on the back and buttocks (Figure, A). Some plaques were annular and polycyclic in configuration, with central hyperpigmentation (Figure, B). His chest, abdomen, face, and oral mucosa were clear. A complete blood cell count was notable for an eosinophilia of 11%, with an absolute cell count of 0.80 ×103/uL. Results from a comprehensive metabolic panel were normal. A biopsy was performed on his right thigh for histopathological examination. ### OUTPUT:
JAMA_FINAL79
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An otherwise healthy woman in her 30s presented with a painful bruise on her hand that initially appeared a few days after she sustained a twisting injury to the affected hand while participating in acroyoga 2 years before. Since the initial onset, the bruise and pain had persisted despite icing and resting the area. She denied any personal or family history of bleeding disorders. On examination, an ill-defined indurated blue-green plaque was noted on the dorsum of the left hand (Figure 1). Radiography results showed soft tissue swelling but were otherwise unremarkable. Subsequent magnetic resonance imaging showed a heterogeneously fluid hyperintense and T1 heterogeneously hyperintense lesion measuring approximately 1.6 × 0.5 × 2.9 cm that was centered within the dorsal subcutaneous soft tissue of the hand. An excision was performed. ### OUTPUT:
Hemosiderotic fibrolipomatous tumor
['Dermatology', 'Soft-Tissue Tumors']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: An otherwise healthy man in his 30s presented with a painful bruise on his hand that initially appeared a few days after he sustained a twisting injury to the affected hand while participating in acroyoga 2 years before. Since the initial onset, the bruise and pain had persisted despite icing and resting the area. He denied any personal or family history of bleeding disorders. On examination, an ill-defined indurated blue-green plaque was noted on the dorsum of the left hand (Figure 1). Radiography results showed soft tissue swelling but were otherwise unremarkable. Subsequent magnetic resonance imaging showed a heterogeneously fluid hyperintense and T1 heterogeneously hyperintense lesion measuring approximately 1.6 × 0.5 × 2.9 cm that was centered within the dorsal subcutaneous soft tissue of the hand. An excision was performed. ### OUTPUT:
JAMA_FINAL80
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 69-year-old woman with a newly diagnosed T3N2cM0 poorly differentiated squamous cell carcinoma unrelated to human papillomavirus (HPV) of the lower lip mucosa presented to the medical oncology clinic 3 days after initiating neoadjuvant immune checkpoint blockade immunotherapy with redness and swelling of the tumor site. Four days after treatment, a white head formed overlying the tumor that erupted through the skin surface (Figure 1). Thin, cloudy discharge that was not foul-smelling drained from the tumor from posttreatment days 5 to 10, at which point the drainage stopped spontaneously. Throughout, the patient reported no pain and remained afebrile. Laboratory results on days 5, 9, and 14 demonstrated the absence of leukocytosis, and serial wound cultures failed to demonstrate pathogenic growth. No antibiotics were administered. The patient completed the neoadjuvant immunotherapy and underwent a margin-negative tumor resection without intraoperative or postoperative complications. ### OUTPUT:
Immunotherapy-related inflammation
['Dermatology', 'Targeted and Immune Therapy', 'Oncology', 'Surgery', 'Surgical Oncology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 69-year-old man with a newly diagnosed T3N2cM0 poorly differentiated squamous cell carcinoma unrelated to human papillomavirus (HPV) of the lower lip mucosa presented to the medical oncology clinic 3 days after initiating neoadjuvant immune checkpoint blockade immunotherapy with redness and swelling of the tumor site. Four days after treatment, a white head formed overlying the tumor that erupted through the skin surface (Figure 1). Thin, cloudy discharge that was not foul-smelling drained from the tumor from posttreatment days 5 to 10, at which point the drainage stopped spontaneously. Throughout, the patient reported no pain and remained afebrile. Laboratory results on days 5, 9, and 14 demonstrated the absence of leukocytosis, and serial wound cultures failed to demonstrate pathogenic growth. No antibiotics were administered. The patient completed the neoadjuvant immunotherapy and underwent a margin-negative tumor resection without intraoperative or postoperative complications. ### OUTPUT:
JAMA_FINAL81
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A school-aged boy presented with occasionally pruritic, generalized hyperkeratotic papules with central white spicules and comedo-like plugs that were in a linear distribution on his face, trunk, and extremities since birth. Some of the eruptions on his trunk had spontaneously resolved with developmental growth. There was nonconsanguineous marriage of his parents, and no family members had similar lesions. The patient was otherwise in good general health and without developmental delay. Physical examination showed generalized, linear hyperkeratotic papules with numerous central small filiform keratotic white spicules and brown plugs on the head, face, neck, trunk, and bilateral upper and lower extremities (Figure, A and B), including his palms and soles along Blaschko lines, accompanied with alopecia of the scalp and eyebrows. The examination of nails, mucosae, and teeth was unremarkable. No extracutaneous involvement was observed. Dermoscopic examination showed many central white spines on the face (Figure, C) and brown cores surrounded by yellow crater-like rings on the right palm. A skin biopsy specimen was taken from the hyperkeratotic papules with white spicules on his right thigh (Figure, D). ### OUTPUT:
Porokeratotic eccrine ostial and dermal duct nevus
['Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A school-aged girl presented with occasionally pruritic, generalized hyperkeratotic papules with central white spicules and comedo-like plugs that were in a linear distribution on her face, trunk, and extremities since birth. Some of the eruptions on her trunk had spontaneously resolved with developmental growth. There was nonconsanguineous marriage of her parents, and no family members had similar lesions. The patient was otherwise in good general health and without developmental delay. Physical examination showed generalized, linear hyperkeratotic papules with numerous central small filiform keratotic white spicules and brown plugs on the head, face, neck, trunk, and bilateral upper and lower extremities (Figure, A and B), including her palms and soles along Blaschko lines, accompanied with alopecia of the scalp and eyebrows. The examination of nails, mucosae, and teeth was unremarkable. No extracutaneous involvement was observed. Dermoscopic examination showed many central white spines on the face (Figure, C) and brown cores surrounded by yellow crater-like rings on the right palm. A skin biopsy specimen was taken from the hyperkeratotic papules with white spicules on her right thigh (Figure, D). ### OUTPUT:
JAMA_FINAL82
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy. ### OUTPUT:
Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome
['Dermatology', 'Neurology', 'Rheumatology', 'Spinal Cord Disorders']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 51-year-old previously healthy woman was admitted with severe neck pain for 6 days. In the past month, she felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning her head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. She had no history of tobacco, alcohol, or drug misuse. On examination, she was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy. ### OUTPUT:
JAMA_FINAL83
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 55-year-old male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications. Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended. ### OUTPUT:
Madelung disease
['Oncology', 'Otolaryngology', 'Soft-Tissue Tumors', 'Head and Neck Surgery']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 55-year-old female jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. She did not have any neurological deficits. On further questioning, she had a similar mass that was treated with liposuction 10 years prior. Her family history was negative for any head and neck benign or malignant disease. Her social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications. Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended. ### OUTPUT:
JAMA_FINAL84
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 54-year-old White woman with a history of lobular breast carcinoma in situ treated with lumpectomy as well as chromophobe kidney cell carcinoma treated with partial nephrectomy was referred for evaluation of an asymptomatic, amelanotic choroidal mass in her left eye, suspicious for metastatic disease. On examination, best-corrected visual acuity was 20/20 OU and intraocular pressures were normal in both eyes at 10 mm Hg. Slitlamp biomicroscopy of the anterior chamber was within normal limits in both eyes. Dilated fundus examination revealed normal findings in the right eye and clear vitreous with a subretinal mass in the left eye inferior to the optic disc and measuring 3 × 2 mm in base. Color fundus photography of the left eye (Figure, A) showed an amelanotic lesion under the retina inferior to the optic disc and 3 mm from the foveola surrounded by a subtle orange halo. Fundus autofluorescence (Figure, B) showed the lesion to be hyperautofluorescent. Optical coherence tomography (OCT) imaging of the lesion showed the mass was primarily in the sclera and pushed and thinned the overlying choroid (Figure, C). ### OUTPUT:
Focal scleral nodule
['Nephrology', 'Breast Cancer', 'Oncology', 'Ophthalmology', 'Choroidal Disorders']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 54-year-old White man with a history of lobular breast carcinoma in situ treated with lumpectomy as well as chromophobe kidney cell carcinoma treated with partial nephrectomy was referred for evaluation of an asymptomatic, amelanotic choroidal mass in his left eye, suspicious for metastatic disease. On examination, best-corrected visual acuity was 20/20 OU and intraocular pressures were normal in both eyes at 10 mm Hg. Slitlamp biomicroscopy of the anterior chamber was within normal limits in both eyes. Dilated fundus examination revealed normal findings in the right eye and clear vitreous with a subretinal mass in the left eye inferior to the optic disc and measuring 3 × 2 mm in base. Color fundus photography of the left eye (Figure, A) showed an amelanotic lesion under the retina inferior to the optic disc and 3 mm from the foveola surrounded by a subtle orange halo. Fundus autofluorescence (Figure, B) showed the lesion to be hyperautofluorescent. Optical coherence tomography (OCT) imaging of the lesion showed the mass was primarily in the sclera and pushed and thinned the overlying choroid (Figure, C). ### OUTPUT:
JAMA_FINAL85
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 72-year-old man presented with mild proximal weakness developing into progressive camptocormia, head drop, and prominent dysphagia over a 2-year period. He reported a 20-kg weight loss and numbness to the ankles. His medical history was significant for thyroid cancer treated with total thyroidectomy resulting in a chronic left accessory nerve injury, type 2 diabetes, hypertension, and gout. His medications were metformin, allopurinol, perindopril, thyroxine, and rabeprazole. He had no history of smoking and drank 3 glasses of wine per week. His family history was unremarkable. Examination revealed significant wasting of proximal and paraspinal muscles with a flexed spine posture in the upright position (Figure 1A). He had symmetric Medical Research Council grade 4/5 weakness of neck flexion, shoulder abduction, elbow flexion and extension, and hip flexion and extension bilaterally. He had weakness of left shoulder elevation and winging of the left scapula secondary to the accessory nerve injury. His deep tendon reflexes were normal and symmetric. Pinprick sensation was reduced in both feet. ### OUTPUT:
Sporadic late-onset nemaline rod myopathy
['Hematology', 'Neurology', 'Neuromuscular Diseases', 'Swallowing and Dysphagia']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 72-year-old woman presented with mild proximal weakness developing into progressive camptocormia, head drop, and prominent dysphagia over a 2-year period. She reported a 20-kg weight loss and numbness to the ankles. Her medical history was significant for thyroid cancer treated with total thyroidectomy resulting in a chronic left accessory nerve injury, type 2 diabetes, hypertension, and gout. Her medications were metformin, allopurinol, perindopril, thyroxine, and rabeprazole. She had no history of smoking and drank 3 glasses of wine per week. Her family history was unremarkable. Examination revealed significant wasting of proximal and paraspinal muscles with a flexed spine posture in the upright position (Figure 1A). She had symmetric Medical Research Council grade 4/5 weakness of neck flexion, shoulder abduction, elbow flexion and extension, and hip flexion and extension bilaterally. She had weakness of left shoulder elevation and winging of the left scapula secondary to the accessory nerve injury. Her deep tendon reflexes were normal and symmetric. Pinprick sensation was reduced in both feet. ### OUTPUT:
JAMA_FINAL86
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A healthy 12-year-old female individual received a diagnosis of SARS-CoV-2 and reported visual symptoms 2 days later, with bilateral blurry vision, large blue paracentral scotomata, and a migraine without a scintillating scotoma. On clinical examination, visual acuity measured 20/70 + 1 in the right eye and 20/100 in the left eye, while she previously had visual acuity of 20/25 in each eye on examination 8 years prior. Motility, visual fields, and anterior segment examination results were normal. Dilated fundus examination revealed subtle reddish geographic irregularities at the level of the retinal pigment epithelial at a nasal juxtafoveal location in both eyes. The optic discs, vessels, and periphery were normal. Near-infrared (IR) imaging highlighted the irregularities in both eyes (Figure 1). ### OUTPUT:
COVID-19–associated acute macular neuroretinopathy
['Infectious Diseases', 'Retinal Disorders', 'Coronavirus (COVID-19)', 'Ophthalmology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: Case report: A healthy 12-year-old male individual received a diagnosis of SARS-CoV-2 and reported visual symptoms 2 days later, with bilateral blurry vision, large blue paracentral scotomata, and a migraine without a scintillating scotoma. On clinical examination, visual acuity measured 20/70 + 1 in the right eye and 20/100 in the left eye, while he previously had visual acuity of 20/25 in each eye on examination 8 years prior. Motility, visual fields, and anterior segment examination results were normal. Dilated fundus examination revealed subtle reddish geographic irregularities at the level of the retinal pigment epithelial at a nasal juxtafoveal location in both eyes. The optic discs, vessels, and periphery were normal. Near-infrared (IR) imaging highlighted the irregularities in both eyes (Figure 1). ### OUTPUT:
JAMA_FINAL87
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 50s presented with a 3-month history of rapidly spreading intensively pruritic papules on her extremities. The lesions consisted of scattered, erythematous, annular papules measuring up to 5 mm wide (Figure 1). Further examination revealed a few asymptomatic brown flat papules scattered on her face; the palms, soles, and oral mucosa were not involved. The patient had no remarkable medical or family history and was not concurrently being treated with any medications. She had been previously diagnosed with eczema and treated with topical steroid ointments and oral compound glycyrrhizin tablets, which had no obvious effect. ### OUTPUT:
Eruptive pruritic papular porokeratosis (EPPP)
['Dermatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 50s presented with a 3-month history of rapidly spreading intensively pruritic papules on his extremities. The lesions consisted of scattered, erythematous, annular papules measuring up to 5 mm wide (Figure 1). Further examination revealed a few asymptomatic brown flat papules scattered on his face; the palms, soles, and oral mucosa were not involved. The patient had no remarkable medical or family history and was not concurrently being treated with any medications. He had been previously diagnosed with eczema and treated with topical steroid ointments and oral compound glycyrrhizin tablets, which had no obvious effect. ### OUTPUT:
JAMA_FINAL88
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 80s with a history of heart failure with preserved ejection fraction, permanent atrial fibrillation, and coronary artery bypass graft 10 years ago presented with recurrent presyncope and bradycardia. Review of prior physician encounters revealed reports of lightheadedness and electrocardiograms (ECGs) with atrial fibrillation with ventricular rates of 40 to 50 beats per minute. Current medications included carvedilol, 25 mg, twice daily and apixaban, 5 mg, twice daily. An ECG (Figure, A) showed atrial fibrillation with an irregular ventricular rate of around 60 beats per minute, right bundle branch block (RBBB), and left posterior fascicular block (LPFB). ### OUTPUT:
RBBB with left posterior hemiblock and left arm–left leg lead reversal mimicking alternating left anterior fascicular block and LPFB (trifascicular block or Rosenbaum syndrome)
['Cardiology', 'Rhythm Disorders']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 80s with a history of heart failure with preserved ejection fraction, permanent atrial fibrillation, and coronary artery bypass graft 10 years ago presented with recurrent presyncope and bradycardia. Review of prior physician encounters revealed reports of lightheadedness and electrocardiograms (ECGs) with atrial fibrillation with ventricular rates of 40 to 50 beats per minute. Current medications included carvedilol, 25 mg, twice daily and apixaban, 5 mg, twice daily. An ECG (Figure, A) showed atrial fibrillation with an irregular ventricular rate of around 60 beats per minute, right bundle branch block (RBBB), and left posterior fascicular block (LPFB). ### OUTPUT:
JAMA_FINAL89
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 15-year-old adolescent girl who was taking an oral contraceptive presented to the emergency department with left lower quadrant abdominal pain that had developed gradually over a 3-day period. She had no associated nausea, vomiting, diarrhea, hematochezia, bloating, or anorexia. She reported no precipitating factors for the pain and had no history of pregnancy, abdominal surgery, or abdominal trauma. Over the previous 2 years, the patient had experienced similar intermittent episodes of abdominal pain lasting approximately 1 week. Results from laboratory tests, upper endoscopy, colonoscopy, and an abdominal computed tomography scan performed 1 year prior to presentation were normal. In the emergency department, her vital signs were normal and her body mass index was 20.4 (calculated as weight in kilograms divided by the square of height in meters). Abdominal examination revealed no rigidity or guarding; however, a 1-cm point of maximal tenderness was identified in the left lower abdominal quadrant (Figure). During palpation of this 1-cm area, the pain increased when she lifted her head and tensed her abdominal muscles. She experienced cold hypoesthesia when an alcohol gauze pad was applied to this area and severe pain when the skin was pinched. ### OUTPUT:
Anterior cutaneous nerve entrapment syndrome (ACNES)
['Emergency Medicine', 'Neuromuscular Diseases', 'Neuropathy', 'Surgery', 'Gastroenterology and Hepatology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 15-year-old adolescent boy who was taking an oral contraceptive presented to the emergency department with left lower quadrant abdominal pain that had developed gradually over a 3-day period. He had no associated nausea, vomiting, diarrhea, hematochezia, bloating, or anorexia. He reported no precipitating factors for the pain and had no history of pregnancy, abdominal surgery, or abdominal trauma. Over the previous 2 years, the patient had experienced similar intermittent episodes of abdominal pain lasting approximately 1 week. Results from laboratory tests, upper endoscopy, colonoscopy, and an abdominal computed tomography scan performed 1 year prior to presentation were normal. In the emergency department, his vital signs were normal and his body mass index was 20.4 (calculated as weight in kilograms divided by the square of height in meters). Abdominal examination revealed no rigidity or guarding; however, a 1-cm point of maximal tenderness was identified in the left lower abdominal quadrant (Figure). During palpation of this 1-cm area, the pain increased when he lifted his head and tensed his abdominal muscles. He experienced cold hypoesthesia when an alcohol gauze pad was applied to this area and severe pain when the skin was pinched. ### OUTPUT:
JAMA_FINAL90
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A school-aged girl presented to the dermatology clinic with a 6-year history of hair loss and short hair. Her scalp hair was relatively normal in terms of density and length at birth. Since the age of 1 year, the girl had begun to have frequent hair loss without pulling. Her mother also found that her hair grew to approximately the same maximum length down to the upper neck without trimming. On clinical examination, diffuse, short, sparse, lanugolike, black hair over the scalp was found (Figure, A and B). The surface of the scalp was smooth without inflammatory changes or focal alopecic patches. No involvement of eyebrows, eyelashes, nails, teeth, or body hair was found. Her intellectual performance was normal at presentation and no developmental delay had ever been noted. She denied experiencing a stressful event recently, and no habitual pulling of hair was observed by her family. Family history regarding hair loss was unremarkable. ### OUTPUT:
Hypotrichosis simplex of the scalp
['Dermatology', 'Genetics and Genomics', 'Hair Disorders', 'Pediatrics']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A school-aged boy presented to the dermatology clinic with a 6-year history of hair loss and short hair. His scalp hair was relatively normal in terms of density and length at birth. Since the age of 1 year, the boy had begun to have frequent hair loss without pulling. His mother also found that his hair grew to approximately the same maximum length down to the upper neck without trimming. On clinical examination, diffuse, short, sparse, lanugolike, black hair over the scalp was found (Figure, A and B). The surface of the scalp was smooth without inflammatory changes or focal alopecic patches. No involvement of eyebrows, eyelashes, nails, teeth, or body hair was found. His intellectual performance was normal at presentation and no developmental delay had ever been noted. He denied experiencing a stressful event recently, and no habitual pulling of hair was observed by his family. Family history regarding hair loss was unremarkable. ### OUTPUT:
JAMA_FINAL91
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A previously healthy 6-year-old boy taking no regular medications presented to the emergency department with persistent fever and cough for 15 days. Six days prior to presentation, multiple vesiculobullous lesions appeared on his palms and soles. Three days later, he developed erythema; vesicles and erosions on his face, trunk, and limbs; erosions on his lips and oral mucosa; eyelid swelling; and blisters on his anal mucosa. On presentation, his temperature was 38.7 °C (101.7 °F); heart rate, 125/min; blood pressure, 98/50 mm Hg; and oxygen saturation, 98% on room air. Physical examination revealed bilateral exudative conjunctivitis and white exudates on his tongue, posterior pharynx, and buccal mucosa. Erosions with overlying dried blood were noted around his eyes, lips, and anal mucosa. He had targetoid erythematous papules on his face and vesiculobullous lesions on his torso and extremities (Figure). Auscultation of his lungs revealed bilateral crackles. Laboratory testing showed a white blood cell count of 15 000/μL (82% neutrophils); erythrocyte sedimentation rate, 39 mm/h; and C-reactive protein level, 57.1 mg/L. A computed tomography scan of the chest revealed bilateral lower lobe infiltrates. Azithromycin (10 mg/kg daily, intravenously) was started. ### OUTPUT:
Reactive infectious mucocutaneous eruption (RIME)
['Dermatology', 'Infectious Diseases', 'Otolaryngology', 'Pediatrics']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A previously healthy 6-year-old girl taking no regular medications presented to the emergency department with persistent fever and cough for 15 days. Six days prior to presentation, multiple vesiculobullous lesions appeared on her palms and soles. Three days later, she developed erythema; vesicles and erosions on her face, trunk, and limbs; erosions on her lips and oral mucosa; eyelid swelling; and blisters on her anal mucosa. On presentation, her temperature was 38.7 °C (101.7 °F); heart rate, 125/min; blood pressure, 98/50 mm Hg; and oxygen saturation, 98% on room air. Physical examination revealed bilateral exudative conjunctivitis and white exudates on her tongue, posterior pharynx, and buccal mucosa. Erosions with overlying dried blood were noted around her eyes, lips, and anal mucosa. She had targetoid erythematous papules on her face and vesiculobullous lesions on her torso and extremities (Figure). Auscultation of her lungs revealed bilateral crackles. Laboratory testing showed a white blood cell count of 15 000/μL (82% neutrophils); erythrocyte sedimentation rate, 39 mm/h; and C-reactive protein level, 57.1 mg/L. A computed tomography scan of the chest revealed bilateral lower lobe infiltrates. Azithromycin (10 mg/kg daily, intravenously) was started. ### OUTPUT:
JAMA_FINAL92
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 16-year-old male patient developed acute-onset right-sided periorbital swelling several days after being hit in that area by a snowball. The swelling worsened over the following 3 weeks despite use of warm compresses and a course of doxycycline prescribed by his outside eye care professionals. He had progressive binocular diplopia and right periorbital pain, swelling, and redness. Blurriness of the right eye that started the week before presentation eventually caused enough concern that the patient presented to his local emergency department where magnetic resonance imaging (MRI) of the brain and orbits revealed an intraconal mass (Figure, A). He then came to our institution’s emergency department for urgent ophthalmology consultation. ### OUTPUT:
Orbital lymphangioma
['Emergency Medicine', 'Intraocular Tumors', 'Oncology', 'Ophthalmology', 'Orbit']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 16-year-old female patient developed acute-onset right-sided periorbital swelling several days after being hit in that area by a snowball. The swelling worsened over the following 3 weeks despite use of warm compresses and a course of doxycycline prescribed by her outside eye care professionals. She had progressive binocular diplopia and right periorbital pain, swelling, and redness. Blurriness of the right eye that started the week before presentation eventually caused enough concern that the patient presented to her local emergency department where magnetic resonance imaging (MRI) of the brain and orbits revealed an intraconal mass (Figure, A). She then came to our institution’s emergency department for urgent ophthalmology consultation. ### OUTPUT:
JAMA_FINAL93
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A South Asian male individual in his early 40s with a strong family history (FHx) of atherosclerotic cardiovascular disease (ASCVD) including premature cardiovascular events in multiple family members presented to establish care for cardiovascular risk stratification. He had no traditional risk factors for ASCVD and no cardiac symptoms or limitations. He had never smoked, was physically active, and did not take any medications. His 10-year ASCVD risk was estimated at 1.6% (low risk) based on the pooled cohort equations (PCEs); however, he had 2 risk-enhancing factors: South Asian ancestry and a FHx of premature ASCVD. His father had a myocardial infarction at age 39 years, and, importantly, his older brother had angioplasty with multiple stents at age 43 years. Additionally, multiple male cousins on his father’s side had coronary artery disease, the details of which were unspecified. Owing to his striking FHx of premature ASCVD, he underwent screening for elevated lipoprotein(a) [Lp(a)] and obtained a coronary calcium score. His Lp(a) level was elevated at 136 nmol/L and his coronary calcium score of 137 Agatston units was notable and placed him in the 94th percentile for his age (Figure 1). He returned to the office for further counseling on what to do next about these findings. ### OUTPUT:
Elevated Lp(a) in the setting of strongly positive FHx and high coronary artery calcium score for the patient’s age
['Cardiac Imaging', 'Cardiovascular Risk Factors', 'Ischemic Heart Disease', 'Cardiology', 'Dyslipidemia']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A South Asian female individual in her early 40s with a strong family history (FHx) of atherosclerotic cardiovascular disease (ASCVD) including premature cardiovascular events in multiple family members presented to establish care for cardiovascular risk stratification. She had no traditional risk factors for ASCVD and no cardiac symptoms or limitations. She had never smoked, was physically active, and did not take any medications. Her 10-year ASCVD risk was estimated at 1.6% (low risk) based on the pooled cohort equations (PCEs); however, she had 2 risk-enhancing factors: South Asian ancestry and a FHx of premature ASCVD. Her father had a myocardial infarction at age 39 years, and, importantly, her older brother had angioplasty with multiple stents at age 43 years. Additionally, multiple male cousins on her father’s side had coronary artery disease, the details of which were unspecified. Owing to her striking FHx of premature ASCVD, she underwent screening for elevated lipoprotein(a) [Lp(a)] and obtained a coronary calcium score. Her Lp(a) level was elevated at 136 nmol/L and her coronary calcium score of 137 Agatston units was notable and placed her in the 94th percentile for her age (Figure 1). She returned to the office for further counseling on what to do next about these findings. ### OUTPUT:
JAMA_FINAL94
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 52-year-old man with a history of severe primary open-angle glaucoma in both eyes and elevated intraocular pressure (IOP) in response to topical corticosteroids presented with an IOP above target of 19 to 23 mm Hg OS. He also had mild chronic macular edema in both eyes after remote cataract surgery and vitrectomy with membrane peel in both eyes. Two years prior, he underwent Baerveldt tube shunt in his left eye, and his IOP since surgery had been 8 to 14 mm Hg. Ophthalmic medications on presentation were timolol eye drops twice daily, brinzolamide-brimonidine eye drops 3 times daily, bimatoprost eye drops every night at bedtime, bromfenac eye drops once daily, and fluorometholone eye drops twice daily in both eyes. During his visit, the patient complained of severe physical exhaustion, syncopal episodes, dysphagia, and sinus congestion. On external examination, he had diffuse facial edema and erythema without proptosis. Slitlamp examination showed mild chemosis and hyperemia in both eyes and a patent Baerveldt tube ostium in the midanterior chamber with normal bleb morphology without a tense capsule. A 24-2 Humphrey visual field showed new glaucoma progression in the left eye (Figure 1). ### OUTPUT:
Elevated IOP due to elevated episcleral venous pressure secondary to superior vena cava syndrome
['Glaucoma', 'Hematology', 'Oncology', 'Ophthalmology', 'Radiation Oncology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 52-year-old woman with a history of severe primary open-angle glaucoma in both eyes and elevated intraocular pressure (IOP) in response to topical corticosteroids presented with an IOP above target of 19 to 23 mm Hg OS. She also had mild chronic macular edema in both eyes after remote cataract surgery and vitrectomy with membrane peel in both eyes. Two years prior, she underwent Baerveldt tube shunt in her left eye, and her IOP since surgery had been 8 to 14 mm Hg. Ophthalmic medications on presentation were timolol eye drops twice daily, brinzolamide-brimonidine eye drops 3 times daily, bimatoprost eye drops every night at bedtime, bromfenac eye drops once daily, and fluorometholone eye drops twice daily in both eyes. During her visit, the patient complained of severe physical exhaustion, syncopal episodes, dysphagia, and sinus congestion. On external examination, she had diffuse facial edema and erythema without proptosis. Slitlamp examination showed mild chemosis and hyperemia in both eyes and a patent Baerveldt tube ostium in the midanterior chamber with normal bleb morphology without a tense capsule. A 24-2 Humphrey visual field showed new glaucoma progression in the left eye (Figure 1). ### OUTPUT:
JAMA_FINAL95
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 70s presented with a 6-month history of a rash on the left forearm, which gradually increased in severity. The patient developed a rash on the dorsal aspect of his hand half a year ago without any pain or itching discomfort and denied any history of injury or exposure to suspected pathogens prior to onset. After self-medication with topical herbal medicine, the lesions gradually spread to the forearm and fused into plaques, and ulcers often recurred on the surface. He denied any systemic symptoms and concerns. Physical examination revealed large, firm, mildly swollen erythematous plaques on the back of the left forearm with purulent discharge and crusting (Figure, A). Results of routine laboratory investigations, including complete blood cell count, biochemical profile, and chest radiography, were normal. A biopsy specimen was taken for pathological examination (Figure, B-D). ### OUTPUT:
Cutaneous protothecosis
['Dermatology', 'Infectious Diseases', 'Skin Infections']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 70s presented with a 6-month history of a rash on the left forearm, which gradually increased in severity. The patient developed a rash on the dorsal aspect of her hand half a year ago without any pain or itching discomfort and denied any history of injury or exposure to suspected pathogens prior to onset. After self-medication with topical herbal medicine, the lesions gradually spread to the forearm and fused into plaques, and ulcers often recurred on the surface. She denied any systemic symptoms and concerns. Physical examination revealed large, firm, mildly swollen erythematous plaques on the back of the left forearm with purulent discharge and crusting (Figure, A). Results of routine laboratory investigations, including complete blood cell count, biochemical profile, and chest radiography, were normal. A biopsy specimen was taken for pathological examination (Figure, B-D). ### OUTPUT:
JAMA_FINAL96
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A man in his 80s with a medical history of gastric adenocarcinoma treated with total gastrectomy presented with asymptomatic lesions on his tongue that gradually developed during the previous 3 months. Intraoral examination revealed multiple yellowish to erythematous papules and verrucous cobblestone-like plaques on the mucosal surface on both sides of his tongue (Figure, A and B). The skin of the face, neck, arms, and other sun-exposed areas did not reveal any associated lesions. He reported occasional alcohol intake, and there was no history of tobacco-related habits or oral trauma. The results of laboratory investigations, including a complete blood cell count, serum chemistry panel, liver and kidney function test, C-reactive protein levels, lipid profile, and serum and urine electrophoresis disclosed no abnormalities. With the clinical suspicion of squamous cell carcinoma, an incisional biopsy was performed (Figure, C and D). ### OUTPUT:
Nodular colloid degeneration
['Dermatology', 'Otolaryngology', 'Dental Medicine']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A woman in her 80s with a medical history of gastric adenocarcinoma treated with total gastrectomy presented with asymptomatic lesions on her tongue that gradually developed during the previous 3 months. Intraoral examination revealed multiple yellowish to erythematous papules and verrucous cobblestone-like plaques on the mucosal surface on both sides of her tongue (Figure, A and B). The skin of the face, neck, arms, and other sun-exposed areas did not reveal any associated lesions. She reported occasional alcohol intake, and there was no history of tobacco-related habits or oral trauma. The results of laboratory investigations, including a complete blood cell count, serum chemistry panel, liver and kidney function test, C-reactive protein levels, lipid profile, and serum and urine electrophoresis disclosed no abnormalities. With the clinical suspicion of squamous cell carcinoma, an incisional biopsy was performed (Figure, C and D). ### OUTPUT:
JAMA_FINAL97
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 46-year-old man with no significant medical history presented to the emergency department (ED) 6 hours after a 20-minute episode of chest pain and diaphoresis that occurred at rest and resolved spontaneously. Two days earlier, he reported a similar 20-minute episode of chest pain and diaphoresis. The patient currently smoked 30 cigarettes per day and had a 20 pack-year history of smoking. He was taking no daily medications and had no family history of cardiovascular disease. On admission to the ED, the patient was asymptomatic. Blood pressure was 102/74 mm Hg, heart rate was 84/min, and oxygen saturation was 100% on room air. His physical examination results were unremarkable. Laboratory testing produced the following results: troponin T, 16 ng/mL (reference, <14 ng/mL); creatine kinase (CK), 82 U/L (1.37 µkat/L) (reference, <190 U/L [<3.17 µkat/L]); CK-MB, 16 U/L (reference, <24 U/L); low-density lipoprotein (LDL) cholesterol, 106 mg/dL (2.75 mmol/L) (reference, <130 mg/dL [<3.37 mmol/L]); and high-density lipoprotein (HDL) cholesterol, 38 mg/dL (0.98 mmol/L) (reference, >35 mg/dL [>0.91 mmol/L]). His initial electrocardiogram (ECG) is shown in Figure 1. ### OUTPUT:
Wellens syndrome type A
['Acute Coronary Syndromes', 'Cardiology', 'Cardiothoracic Surgery', 'Emergency Medicine', 'Ischemic Heart Disease']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 46-year-old woman with no significant medical history presented to the emergency department (ED) 6 hours after a 20-minute episode of chest pain and diaphoresis that occurred at rest and resolved spontaneously. Two days earlier, she reported a similar 20-minute episode of chest pain and diaphoresis. The patient currently smoked 30 cigarettes per day and had a 20 pack-year history of smoking. She was taking no daily medications and had no family history of cardiovascular disease. On admission to the ED, the patient was asymptomatic. Blood pressure was 102/74 mm Hg, heart rate was 84/min, and oxygen saturation was 100% on room air. Her physical examination results were unremarkable. Laboratory testing produced the following results: troponin T, 16 ng/mL (reference, <14 ng/mL); creatine kinase (CK), 82 U/L (1.37 µkat/L) (reference, <190 U/L [<3.17 µkat/L]); CK-MB, 16 U/L (reference, <24 U/L); low-density lipoprotein (LDL) cholesterol, 106 mg/dL (2.75 mmol/L) (reference, <130 mg/dL [<3.37 mmol/L]); and high-density lipoprotein (HDL) cholesterol, 38 mg/dL (0.98 mmol/L) (reference, >35 mg/dL [>0.91 mmol/L]). Her initial electrocardiogram (ECG) is shown in Figure 1. ### OUTPUT:
JAMA_FINAL98
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A patient in their mid-60s was referred for evaluation of a left iris pigmented lesion. The mass had been present for decades and multiple prior office visits with referring ophthalmologists, most recently 4 years prior, showed the mass remained stable in size. The patient’s ocular history included cataract extraction with intraocular lens placement and retinal tear of the right eye and cataract of the left eye. Review of systems was negative for any recent changes in health, weight loss, fever, or night sweats. Visual acuity without correction was 20/20 OD and 20/25+ OS. Intraocular pressures were normal. Slitlamp examination of the right eye was unremarkable, and the left eye had a raised pigmented iris lesion without prominent internal vasculature and with mammillations on the surface (multiple small smooth dome-shaped protuberances on the surface of the tumor). There were large pigment granules on the surface of the tumor and on the adjacent iris surrounding the mass (Figure 1A). There was no ectropion uvea or iris neovascularization. There were mild nuclear sclerotic changes across the lens in the left eye. Ultrasound biomicroscopy showed a homogeneous intrinsic iris solid tumor with a height of 1.4 mm and basal diameter of 4.1 mm, without angle or ciliary body involvement (Figure 1B). ### OUTPUT:
Iris melanocytoma
['Intraocular Tumors', 'Ophthalmology']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A patient in their mid-60s was referred for evaluation of a left iris pigmented lesion. The mass had been present for decades and multiple prior office visits with referring ophthalmologists, most recently 4 years prior, showed the mass remained stable in size. The patient’s ocular history included cataract extraction with intraocular lens placement and retinal tear of the right eye and cataract of the left eye. Review of systems was negative for any recent changes in health, weight loss, fever, or night sweats. Visual acuity without correction was 20/20 OD and 20/25+ OS. Intraocular pressures were normal. Slitlamp examination of the right eye was unremarkable, and the left eye had a raised pigmented iris lesion without prominent internal vasculature and with mammillations on the surface (multiple small smooth dome-shaped protuberances on the surface of the tumor). There were large pigment granules on the surface of the tumor and on the adjacent iris surrounding the mass (Figure 1A). There was no ectropion uvea or iris neovascularization. There were mild nuclear sclerotic changes across the lens in the left eye. Ultrasound biomicroscopy showed a homogeneous intrinsic iris solid tumor with a height of 1.4 mm and basal diameter of 4.1 mm, without angle or ciliary body involvement (Figure 1B). ### OUTPUT:
JAMA_FINAL99
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 61-year-old man presented to our clinic with a 3-month history of rapidly growing and itchy cutaneous nodules all over the body. He denied systemic complaints such as weakness, fever, night sweats, or weight loss. Oral glucocorticoids did not show any therapeutic effect. His medical history was remarkable for mild anemia because of untreated hemorrhoids. Physical examination revealed numerous symmetrically distributed, well-defined, erythematous skin nodules on his back, buttocks, and limb extensors (Figure, A). Prominent lymphadenopathies on bilateral cervical, axillary, and inguinal lymph nodes were noted, with the largest lymph node measuring approximately 5 × 2 cm. Laboratory tests were significant for atypical lymphocytes in the peripheral blood (count up to 6%), an elevated CD4+/CD8+ lymphocyte ratio (9.21; normal range, 0.7-3.1), moderate anemia (hemoglobin level, 8.7 g/dL; normal range, 11.5-15.0 g/dL [to convert to g/L, multiply by 10.0]), a high erythrocyte sedimentation rate (35 mm/h; normal range, 0-25 mm/h), and cryoglobulins composed of mixed polyclonal immunoglobulins. The platelet count (161 × 103/μL; normal range, 125-350 × 103/μL [to convert to ×109/L, multiply by 1.0]) and lactate dehydrogenase (217 U/L; normal range, 100-240 U/L [to convert to μkat/L, multiply by 0.0167]) were normal. Quantification of Epstein-Barr virus (EBV) DNA showed high loads of virus in the peripheral blood (846 copies/mL in serum, 27 700 copies/mL in lymphocytes; normal range, <500 copies/mL). A biopsy specimen from a skin nodule was sent for histopathologic examination (Figure, B). ### OUTPUT:
Cutaneous angioimmunoblastic T-cell lymphoma
['Dermatology', 'Oncology', 'Lymphomas', 'Skin Lymphomas']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 61-year-old woman presented to our clinic with a 3-month history of rapidly growing and itchy cutaneous nodules all over the body. She denied systemic complaints such as weakness, fever, night sweats, or weight loss. Oral glucocorticoids did not show any therapeutic effect. Her medical history was remarkable for mild anemia because of untreated hemorrhoids. Physical examination revealed numerous symmetrically distributed, well-defined, erythematous skin nodules on her back, buttocks, and limb extensors (Figure, A). Prominent lymphadenopathies on bilateral cervical, axillary, and inguinal lymph nodes were noted, with the largest lymph node measuring approximately 5 × 2 cm. Laboratory tests were significant for atypical lymphocytes in the peripheral blood (count up to 6%), an elevated CD4+/CD8+ lymphocyte ratio (9.21; normal range, 0.7-3.1), moderate anemia (hemoglobin level, 8.7 g/dL; normal range, 11.5-15.0 g/dL [to convert to g/L, multiply by 10.0]), a high erythrocyte sedimentation rate (35 mm/h; normal range, 0-25 mm/h), and cryoglobulins composed of mixed polyclonal immunoglobulins. The platelet count (161 × 103/μL; normal range, 125-350 × 103/μL [to convert to ×109/L, multiply by 1.0]) and lactate dehydrogenase (217 U/L; normal range, 100-240 U/L [to convert to μkat/L, multiply by 0.0167]) were normal. Quantification of Epstein-Barr virus (EBV) DNA showed high loads of virus in the peripheral blood (846 copies/mL in serum, 27 700 copies/mL in lymphocytes; normal range, <500 copies/mL). A biopsy specimen from a skin nodule was sent for histopathologic examination (Figure, B). ### OUTPUT:
JAMA_FINAL100
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 68-year-old man with a medical history of coronary artery disease, atrial fibrillation, and obesity had undergone C5 anterior corpectomy and fusion (C4-6) with expandable cage, autograft, and anterior instrumentation and posterior spinal decompression and fusion (C4-7) for cervical spondylotic myelopathy. Five months after surgery, he presented to the otolaryngology clinic with 3 weeks of mild odynophagia and dysphagia. It was noted that the patient had a prominent posterior pharyngeal wall, subtle asymmetry of vocal fold motion, and pooling of secretions in the left pyriform (Video 1). During the next 6 months, he gradually developed shortness of breath and stridor, and eventually presented to the emergency department in respiratory distress requiring intubation for 2 days. Shortly after extubation, laryngeal examination showed fullness of the posterior pharyngeal wall and severely limited vocal fold abduction bilaterally (Figure 1A; Video 1). A modified barium swallow study showed intermittent laryngeal penetration without aspiration (Video 2). Although the patient was unable to tolerate magnetic resonance imaging, a soft tissue computed tomography scan of the neck with contrast revealed a well-positioned plate with no evidence of fluid collection in the setting of a normal leukocyte count. One month later, a neuromuscular specialist investigated potential underlying neurological causes; however, results of nerve conduction, antiacetylcholine receptor, antimuscle-specific kinase, methylmalonic acid, HIV, rapid plasma reagin, vitamin B-12, thyroid stimulating hormone, thyroxine, copper, creatine kinase, and immunofixation studies were all unremarkable. ### OUTPUT:
Delayed iatrogenic bilateral vocal fold paralysis (BVFP)
['Laryngology', 'Neurosurgery', 'Otolaryngology', 'Health Care Safety', 'Surgery']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 68-year-old woman with a medical history of coronary artery disease, atrial fibrillation, and obesity had undergone C5 anterior corpectomy and fusion (C4-6) with expandable cage, autograft, and anterior instrumentation and posterior spinal decompression and fusion (C4-7) for cervical spondylotic myelopathy. Five months after surgery, she presented to the otolaryngology clinic with 3 weeks of mild odynophagia and dysphagia. It was noted that the patient had a prominent posterior pharyngeal wall, subtle asymmetry of vocal fold motion, and pooling of secretions in the left pyriform (Video 1). During the next 6 months, she gradually developed shortness of breath and stridor, and eventually presented to the emergency department in respiratory distress requiring intubation for 2 days. Shortly after extubation, laryngeal examination showed fullness of the posterior pharyngeal wall and severely limited vocal fold abduction bilaterally (Figure 1A; Video 1). A modified barium swallow study showed intermittent laryngeal penetration without aspiration (Video 2). Although the patient was unable to tolerate magnetic resonance imaging, a soft tissue computed tomography scan of the neck with contrast revealed a well-positioned plate with no evidence of fluid collection in the setting of a normal leukocyte count. One month later, a neuromuscular specialist investigated potential underlying neurological causes; however, results of nerve conduction, antiacetylcholine receptor, antimuscle-specific kinase, methylmalonic acid, HIV, rapid plasma reagin, vitamin B-12, thyroid stimulating hormone, thyroxine, copper, creatine kinase, and immunofixation studies were all unremarkable. ### OUTPUT:
JAMA_FINAL101
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 75-year-old woman presenting with decreased visual acuity and metamorphopsia in the right eye was referred for further evaluation of a pigmented epiretinal membrane. She had a history of cutaneous nodular melanoma in the right arm. Tumor staging was classified as T3N0M0 in August 2017, at the time of diagnosis and excision. In April 2018, axillary lymphadenectomy was performed for local recurrence and the patient started treatment with an immune checkpoint inhibitor (ICI) pembrolizumab, without further local or metastatic evidence of the tumor. Ocular history was positive for cataract surgery bilaterally. After cataract surgery in the right eye, an asymptomatic vision loss was noted and the cause was attributed to the presence of choroidal neovascularization (CNV), for which the patient underwent intravitreal anti–vascular endothelial growth factor (anti-VEGF) injections. Examination showed a best-corrected visual acuity of 20/60 OD and 20/20 OS, unremarkable anterior segment findings, and intraocular pressures of 12 mm Hg OU. A fundus examination in the right eye revealed scarce pigmented cells in the anterior vitreous, a dark-pigmented epiretinal membrane, and an area of retinal hyperpigmentation in the inferior temporal arcade corresponding to the CNV (Figure 1). Optical coherence tomography imaging revealed a hyperreflective structure on the surface of the inner retina with increased macular thickness, compatible with the described epiretinal membrane (Figure 1). ### OUTPUT:
Cutaneous melanoma metastatic to the vitreous cavity and deposition of melanoma cells over the epiretinal membrane
['Dermatology', 'Intraocular Tumors', 'Oncology', 'Skin Cancer', 'Retinal Disorders']
Develop a 10-Step differential diagnosis, for each step, give only one differential diagnosis with only the disease name at current step, do not provide repeated hypotheses or diagnoses that appear in previous steps. Rerank all 10 differential diagnosis using all patient information and test results. Let’s think step by step. ### INPUT: A 75-year-old man presenting with decreased visual acuity and metamorphopsia in the right eye was referred for further evaluation of a pigmented epiretinal membrane. He had a history of cutaneous nodular melanoma in the right arm. Tumor staging was classified as T3N0M0 in August 2017, at the time of diagnosis and excision. In April 2018, axillary lymphadenectomy was performed for local recurrence and the patient started treatment with an immune checkpoint inhibitor (ICI) pembrolizumab, without further local or metastatic evidence of the tumor. Ocular history was positive for cataract surgery bilaterally. After cataract surgery in the right eye, an asymptomatic vision loss was noted and the cause was attributed to the presence of choroidal neovascularization (CNV), for which the patient underwent intravitreal anti–vascular endothelial growth factor (anti-VEGF) injections. Examination showed a best-corrected visual acuity of 20/60 OD and 20/20 OS, unremarkable anterior segment findings, and intraocular pressures of 12 mm Hg OU. A fundus examination in the right eye revealed scarce pigmented cells in the anterior vitreous, a dark-pigmented epiretinal membrane, and an area of retinal hyperpigmentation in the inferior temporal arcade corresponding to the CNV (Figure 1). Optical coherence tomography imaging revealed a hyperreflective structure on the surface of the inner retina with increased macular thickness, compatible with the described epiretinal membrane (Figure 1). ### OUTPUT: