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nord_400_0 | Overview of Ellis Van Creveld Syndrome | Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor development and intelligence are normal. This disorder is inherited as an autosomal recessive condition. | Overview of Ellis Van Creveld Syndrome. Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor development and intelligence are normal. This disorder is inherited as an autosomal recessive condition. | 400 | Ellis Van Creveld Syndrome |
nord_400_1 | Symptoms of Ellis Van Creveld Syndrome | Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Ectodermal abnormalities include abnormal development of hair, nails and teeth. More than fifty percent of the patients with Ellis-Van Creveld syndrome are born with malformations of the heart. The most common heart defect is an abnormal opening in the wall between the two upper heart chambers (atrial septal defect). Other types of heart defects have also been reported including ventricular septal defects and patent ductus arteriosis.Some boys with this condition have been described with undescended testicles (cryptorchidism) or an abnormally located opening of the urine canal in the penis (epispadias). Abnormalities in the chest wall, spine and respiratory system have also been reported. | Symptoms of Ellis Van Creveld Syndrome. Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Ectodermal abnormalities include abnormal development of hair, nails and teeth. More than fifty percent of the patients with Ellis-Van Creveld syndrome are born with malformations of the heart. The most common heart defect is an abnormal opening in the wall between the two upper heart chambers (atrial septal defect). Other types of heart defects have also been reported including ventricular septal defects and patent ductus arteriosis.Some boys with this condition have been described with undescended testicles (cryptorchidism) or an abnormally located opening of the urine canal in the penis (epispadias). Abnormalities in the chest wall, spine and respiratory system have also been reported. | 400 | Ellis Van Creveld Syndrome |
nord_400_2 | Causes of Ellis Van Creveld Syndrome | Ellis-Van Creveld syndrome is associated with abnormalities (mutations) in two genes on the number 4 chromosome called EVC and EVC2. These gene mutations result in the production of abnormally small EVC and EVC2 proteins. Some affected individuals do not have mutations in these genes, so it is likely that other unknown genes are also responsible for EVC. Ellis-Van Creveld syndrome is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease. Some individuals who carry one copy of the EVC or EVC2 gene have a condition called Weyers acrofacial dysostosis, described in the Related Disorders section of this report. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females. All individuals carry a number of abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. | Causes of Ellis Van Creveld Syndrome. Ellis-Van Creveld syndrome is associated with abnormalities (mutations) in two genes on the number 4 chromosome called EVC and EVC2. These gene mutations result in the production of abnormally small EVC and EVC2 proteins. Some affected individuals do not have mutations in these genes, so it is likely that other unknown genes are also responsible for EVC. Ellis-Van Creveld syndrome is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease. Some individuals who carry one copy of the EVC or EVC2 gene have a condition called Weyers acrofacial dysostosis, described in the Related Disorders section of this report. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females. All individuals carry a number of abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. | 400 | Ellis Van Creveld Syndrome |
nord_400_3 | Affects of Ellis Van Creveld Syndrome | Ellis-Van Creveld syndrome occurs in many ethnic groups throughout the world and effects males and females in equal numbers. This condition has been reported in approximately 150 individuals. It is more common in the Old Order Amish population of Lancaster County, Pennsylvania and in the native population of Western Australia. | Affects of Ellis Van Creveld Syndrome. Ellis-Van Creveld syndrome occurs in many ethnic groups throughout the world and effects males and females in equal numbers. This condition has been reported in approximately 150 individuals. It is more common in the Old Order Amish population of Lancaster County, Pennsylvania and in the native population of Western Australia. | 400 | Ellis Van Creveld Syndrome |
nord_400_4 | Related disorders of Ellis Van Creveld Syndrome | Ellis Van-Creveld syndrome is in the category of rare skeletal disorders called short rib-polydactyly syndromes, belonging to the ciliopathies group. These disorders are characterized by growth deficiency resulting in short stature, abnormally short ribs, extra fingers and toes (polydactyly) and variable visceral manifestations. These additional findings may include polycystic kidneys, underdevelopment (hypoplasia) of the lungs, vertebral and genitourinary abnormalities, central nervous system abnormalities, and cleft lip and cleft palate. They are inherited as autosomal recessive genetic conditions. The short rib-polydactyly group includes 4 antenatal lethal types, Saldino-Noonan, Majewski, Verma-Naumoff and Beemer-Langer syndromes, and 2 types compatible with life, EVC and Asphyxiating Thoracic Dystrophy (ATD) or Jeune syndrome. ATD is characterized by variable respiratory insufficiency due to the thorax narrowness, kidney, liver and retinal abnormalities, and inconstant short stature. (For more information about this condition, choose “asphyxiating thoracic dystrophy” as you search term in the Rare Disease Database.). At least two genes are associated with this condition (IFT80, DYNC2H1). The neonatal clinical presentation overlap with EVC features, especially in absence of heart abnormalities. Weyers acrofacial dysostosis is another genetic disorder associated with polydactyly, dental and nail abnormalities, short stature and abnormal facial features. This condition has been found to be associated with a single mutation in either the EVC or EVC2 gene and follows autosomal dominant inheritance. | Related disorders of Ellis Van Creveld Syndrome. Ellis Van-Creveld syndrome is in the category of rare skeletal disorders called short rib-polydactyly syndromes, belonging to the ciliopathies group. These disorders are characterized by growth deficiency resulting in short stature, abnormally short ribs, extra fingers and toes (polydactyly) and variable visceral manifestations. These additional findings may include polycystic kidneys, underdevelopment (hypoplasia) of the lungs, vertebral and genitourinary abnormalities, central nervous system abnormalities, and cleft lip and cleft palate. They are inherited as autosomal recessive genetic conditions. The short rib-polydactyly group includes 4 antenatal lethal types, Saldino-Noonan, Majewski, Verma-Naumoff and Beemer-Langer syndromes, and 2 types compatible with life, EVC and Asphyxiating Thoracic Dystrophy (ATD) or Jeune syndrome. ATD is characterized by variable respiratory insufficiency due to the thorax narrowness, kidney, liver and retinal abnormalities, and inconstant short stature. (For more information about this condition, choose “asphyxiating thoracic dystrophy” as you search term in the Rare Disease Database.). At least two genes are associated with this condition (IFT80, DYNC2H1). The neonatal clinical presentation overlap with EVC features, especially in absence of heart abnormalities. Weyers acrofacial dysostosis is another genetic disorder associated with polydactyly, dental and nail abnormalities, short stature and abnormal facial features. This condition has been found to be associated with a single mutation in either the EVC or EVC2 gene and follows autosomal dominant inheritance. | 400 | Ellis Van Creveld Syndrome |
nord_400_5 | Diagnosis of Ellis Van Creveld Syndrome | Ellis-Van-Creveld syndrome is diagnosed by the observation of short stature, slow growth, skeletal abnormalities determined by imaging techniques and sometimes teeth present at birth (natal teeth). Molecular genetic testing for the EVC and EVC2 genes is available on a research basis only. Prenatal diagnosis is possible by ultrasound. | Diagnosis of Ellis Van Creveld Syndrome. Ellis-Van-Creveld syndrome is diagnosed by the observation of short stature, slow growth, skeletal abnormalities determined by imaging techniques and sometimes teeth present at birth (natal teeth). Molecular genetic testing for the EVC and EVC2 genes is available on a research basis only. Prenatal diagnosis is possible by ultrasound. | 400 | Ellis Van Creveld Syndrome |
nord_400_6 | Therapies of Ellis Van Creveld Syndrome | TreatmentIt is often necessary to treat respiratory distress shortly after birth that results from a narrow chest and/or heart failure. Natal teeth should be removed because they can interfere with feeding.The treatment of Ellis-Van Creveld syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians, surgeons, cardiologists, dentists, pulmonologists, orthopedists, urologists, physical and occupational therapists and/or other health care professionals.Genetic counseling is recommended for affected individuals and their families. | Therapies of Ellis Van Creveld Syndrome. TreatmentIt is often necessary to treat respiratory distress shortly after birth that results from a narrow chest and/or heart failure. Natal teeth should be removed because they can interfere with feeding.The treatment of Ellis-Van Creveld syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians, surgeons, cardiologists, dentists, pulmonologists, orthopedists, urologists, physical and occupational therapists and/or other health care professionals.Genetic counseling is recommended for affected individuals and their families. | 400 | Ellis Van Creveld Syndrome |
nord_401_0 | Overview of Emery Dreifuss Muscular Dystrophy | SummaryEmery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy). Major symptoms may include muscle wasting and weakness particularly in arms and lower legs (humeroperoneal regions) and contractures of the elbows, Achilles tendons, and upper back muscles. In some cases, additional abnormalities may be present. In most cases, EDMD is inherited as an X-linked or autosomal dominant disease. In extremely rare cases, autosomal recessive inheritance has been reported. Although EDMD has different modes of inheritance, the symptoms are nearly the same.
IntroductionEDMD belongs to a group of rare genetic muscle disorders known as the muscular dystrophies. These disorders are characterized by weakness and atrophy of various voluntary muscles of the body. Approximately 30 different disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns. | Overview of Emery Dreifuss Muscular Dystrophy. SummaryEmery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy). Major symptoms may include muscle wasting and weakness particularly in arms and lower legs (humeroperoneal regions) and contractures of the elbows, Achilles tendons, and upper back muscles. In some cases, additional abnormalities may be present. In most cases, EDMD is inherited as an X-linked or autosomal dominant disease. In extremely rare cases, autosomal recessive inheritance has been reported. Although EDMD has different modes of inheritance, the symptoms are nearly the same.
IntroductionEDMD belongs to a group of rare genetic muscle disorders known as the muscular dystrophies. These disorders are characterized by weakness and atrophy of various voluntary muscles of the body. Approximately 30 different disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns. | 401 | Emery Dreifuss Muscular Dystrophy |
nord_401_1 | Symptoms of Emery Dreifuss Muscular Dystrophy | The age of onset, severity, and progression of EDMD varies greatly from case to case, even among individuals of the same family. Some affected individuals may experience childhood onset with rapid disease progression and severe complications; others may experience adult onset and a slowly progressive course.EDMD is associated with the clinical triad of contractures, muscle weakness, and heart disease. A contracture occurs when thickening and shortening of tissue causes deformity and restricts movement of affected areas, especially the joints. The elbows and Achilles tendons are the most common sites for contractures. Contractures are often the first sign in X-linked EDMD and may occur early during childhood. In autosomal dominant EDMD contractures usually develop after the onset of muscle weakness.Progressive muscle weakness and degeneration (atrophy) usually develops during late childhood or early adolescence usually in the upper arms and lower legs (humero-peroneal regions). Weakness and atrophy of legs muscles may cause affected children to walk on their toes and may result in an abnormal waddling gait. Muscle weakness affecting the arms may cause various problems such as difficulty in raising the arms above the head.Eventually, the muscles of the thigh and hips may become involved making it difficult to climb stairs. The neck, shoulder girdle, and forearms may eventually become involved and the spine may become rigid. As affected individuals age, they may experience limited mobility of the neck. Mild weakness of facial muscles has also been reported. Abnormal curvature of spine (scoliosis) may also occur.Muscle weakness and atrophy is usually slowly progressive during the first three decades of life. Eventually, it may become more rapid. Some individuals with autosomal dominant EDMD may eventually lose the ability to walk (ambulate) and require a wheelchair. Loss of ambulation is rare in X-linked EDMD.Heart abnormalities are the third prominent feature of EDMD and may result in serious complications. Although onset can vary, heart abnormalities usually develop after the second decade of life. Affected individuals may develop disease of the heart muscles (cardiomyopathy) potentially resulting in palpitations, fatigue, poor exercise tolerance, and an impaired ability of the heart to pump blood. Some individuals may experience conduction defects resulting in irregular heartbeats (arrhythmias) or heart block.Heart block is characterized by interference with the transfer of the electrical nerve impulses (conduction) that regulate the normal, rhythmic, pumping action of the heart muscle. The normal heart has four chambers. The two upper chambers are the atria and the two lower chambers are the ventricles. Within the right atrium of a normal heart is a natural pacemaker that initiates and controls the heartbeat. The electrical stimulus travels from the pacemaker (sinoatrial or SA node) to the ventricles along a very specific path consisting of conducting tissue and known as the AV (atrioventricular) node. As long as the electrical impulse is transmitted normally, the heart behaves normally. If the transmission of the signal is impeded, the blocked transmission is known as a heart block or an AV block.Heart blocks are categorized according to the degree of impairment. The severity of such conduction abnormalities varies among individuals with EDMD. In the mild form of heart block, the two upper chambers of the heart (atria) beat normally, but the contractions of the two lower chambers (ventricles) lag slightly behind. In the more severe forms, only a half to a quarter of the atrial beats are conducted to the ventricles. In complete heart block, the atria and ventricles beat separately. In some cases, heart block may lead to blackouts (syncope), breathlessness, and/or irregular heartbeats (arrhythmias). In severe cases, sudden death is possible. | Symptoms of Emery Dreifuss Muscular Dystrophy. The age of onset, severity, and progression of EDMD varies greatly from case to case, even among individuals of the same family. Some affected individuals may experience childhood onset with rapid disease progression and severe complications; others may experience adult onset and a slowly progressive course.EDMD is associated with the clinical triad of contractures, muscle weakness, and heart disease. A contracture occurs when thickening and shortening of tissue causes deformity and restricts movement of affected areas, especially the joints. The elbows and Achilles tendons are the most common sites for contractures. Contractures are often the first sign in X-linked EDMD and may occur early during childhood. In autosomal dominant EDMD contractures usually develop after the onset of muscle weakness.Progressive muscle weakness and degeneration (atrophy) usually develops during late childhood or early adolescence usually in the upper arms and lower legs (humero-peroneal regions). Weakness and atrophy of legs muscles may cause affected children to walk on their toes and may result in an abnormal waddling gait. Muscle weakness affecting the arms may cause various problems such as difficulty in raising the arms above the head.Eventually, the muscles of the thigh and hips may become involved making it difficult to climb stairs. The neck, shoulder girdle, and forearms may eventually become involved and the spine may become rigid. As affected individuals age, they may experience limited mobility of the neck. Mild weakness of facial muscles has also been reported. Abnormal curvature of spine (scoliosis) may also occur.Muscle weakness and atrophy is usually slowly progressive during the first three decades of life. Eventually, it may become more rapid. Some individuals with autosomal dominant EDMD may eventually lose the ability to walk (ambulate) and require a wheelchair. Loss of ambulation is rare in X-linked EDMD.Heart abnormalities are the third prominent feature of EDMD and may result in serious complications. Although onset can vary, heart abnormalities usually develop after the second decade of life. Affected individuals may develop disease of the heart muscles (cardiomyopathy) potentially resulting in palpitations, fatigue, poor exercise tolerance, and an impaired ability of the heart to pump blood. Some individuals may experience conduction defects resulting in irregular heartbeats (arrhythmias) or heart block.Heart block is characterized by interference with the transfer of the electrical nerve impulses (conduction) that regulate the normal, rhythmic, pumping action of the heart muscle. The normal heart has four chambers. The two upper chambers are the atria and the two lower chambers are the ventricles. Within the right atrium of a normal heart is a natural pacemaker that initiates and controls the heartbeat. The electrical stimulus travels from the pacemaker (sinoatrial or SA node) to the ventricles along a very specific path consisting of conducting tissue and known as the AV (atrioventricular) node. As long as the electrical impulse is transmitted normally, the heart behaves normally. If the transmission of the signal is impeded, the blocked transmission is known as a heart block or an AV block.Heart blocks are categorized according to the degree of impairment. The severity of such conduction abnormalities varies among individuals with EDMD. In the mild form of heart block, the two upper chambers of the heart (atria) beat normally, but the contractions of the two lower chambers (ventricles) lag slightly behind. In the more severe forms, only a half to a quarter of the atrial beats are conducted to the ventricles. In complete heart block, the atria and ventricles beat separately. In some cases, heart block may lead to blackouts (syncope), breathlessness, and/or irregular heartbeats (arrhythmias). In severe cases, sudden death is possible. | 401 | Emery Dreifuss Muscular Dystrophy |
nord_401_2 | Causes of Emery Dreifuss Muscular Dystrophy | In most cases, EDMD is inherited as an X-linked recessive trait. EDMD may also be inherited as an autosomal dominant trait. Autosomal recessive inheritance is extremely rare, but has been reported in at least one family. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome Xq28” refers to band 28 on the long arm of the X chromosome. The numbered bands specify the location of the thousands of genes that are present on each chromosome.X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the defective gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disease.Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.If a male with an X-linked disorder is able to reproduce, he will pass the defective gene to all of his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.Investigators have determined that the X-linked form of EDMD is caused by disruption or changes (mutations) of the EMD (also known as STA) gene located on the long arm of the X chromosome (Xq28). The EMD gene encodes a muscle protein known as emerin. Emerin is found in most cell types of the body and skeletal and cardiac muscle have particularly high expression levels.Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.All individuals typically carry a number of abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.Investigators have determined that the autosomal dominant and autosomal recessive forms of EDMD are caused by mutations of the same gene located on the long arm of the chromosome 1 (1q21.2). The gene is known as the LMNA gene and encodes the proteins lamin A and lamin C. Interestingly, mutations in this gene also cause a variety of other human diseases, including limb-girdle muscular dystrophy, dilated cardiomyopathy, Dunnigan-type familial partial lipodystrophy, and the premature aging disease Hutchinson-Gilford progeria syndrome.EDMD can also result from mutations in the nuclear envelope proteins nesprin-1 and -2, which also directly interact with emerin. Mutations in the SUN-domain proteins SUN1 and SUN2, which form a complex with nesprins to connect the nucleus to the cytoskeleton, can also cause EDMD. These findings suggest that disruption in the LINC (Linker between nucleoskeleton and cytoskeleton) complex can contribute to the muscular phenotype in EDMD.Lastly, some cases of EDMD have been attributed to mutations in the FHL1 gene, also known as LUMA, a nuclear membrane protein that binds to emerin At the same time, more than half of all EDMD patients have no identifiable mutations in the above genes, suggesting that additional genes/mutations must be responsible for EDMD. Consequently, substantial efforts are underway to identify additional genes that cause EDMD and the underlying disease mechanism. | Causes of Emery Dreifuss Muscular Dystrophy. In most cases, EDMD is inherited as an X-linked recessive trait. EDMD may also be inherited as an autosomal dominant trait. Autosomal recessive inheritance is extremely rare, but has been reported in at least one family. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome Xq28” refers to band 28 on the long arm of the X chromosome. The numbered bands specify the location of the thousands of genes that are present on each chromosome.X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the defective gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disease.Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.If a male with an X-linked disorder is able to reproduce, he will pass the defective gene to all of his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.Investigators have determined that the X-linked form of EDMD is caused by disruption or changes (mutations) of the EMD (also known as STA) gene located on the long arm of the X chromosome (Xq28). The EMD gene encodes a muscle protein known as emerin. Emerin is found in most cell types of the body and skeletal and cardiac muscle have particularly high expression levels.Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.All individuals typically carry a number of abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.Investigators have determined that the autosomal dominant and autosomal recessive forms of EDMD are caused by mutations of the same gene located on the long arm of the chromosome 1 (1q21.2). The gene is known as the LMNA gene and encodes the proteins lamin A and lamin C. Interestingly, mutations in this gene also cause a variety of other human diseases, including limb-girdle muscular dystrophy, dilated cardiomyopathy, Dunnigan-type familial partial lipodystrophy, and the premature aging disease Hutchinson-Gilford progeria syndrome.EDMD can also result from mutations in the nuclear envelope proteins nesprin-1 and -2, which also directly interact with emerin. Mutations in the SUN-domain proteins SUN1 and SUN2, which form a complex with nesprins to connect the nucleus to the cytoskeleton, can also cause EDMD. These findings suggest that disruption in the LINC (Linker between nucleoskeleton and cytoskeleton) complex can contribute to the muscular phenotype in EDMD.Lastly, some cases of EDMD have been attributed to mutations in the FHL1 gene, also known as LUMA, a nuclear membrane protein that binds to emerin At the same time, more than half of all EDMD patients have no identifiable mutations in the above genes, suggesting that additional genes/mutations must be responsible for EDMD. Consequently, substantial efforts are underway to identify additional genes that cause EDMD and the underlying disease mechanism. | 401 | Emery Dreifuss Muscular Dystrophy |
nord_401_3 | Affects of Emery Dreifuss Muscular Dystrophy | The overall prevalence of EDMD is unknown. The X-linked form is estimated to affect 1 in 100,000 people in the general population. EDMD is believed to be the third most common form of muscular dystrophy. X-linked EDMD is fully expressed in males only. Approximately 10-20 percent of female carriers for X-linked EDMD will develop heart conduction defects and/or muscle weakness. The autosomal dominant and recessive forms of EDMD affect males and females in equal numbers.Approximately 250,000 individuals in the United States are affected by some form of muscular dystrophy. | Affects of Emery Dreifuss Muscular Dystrophy. The overall prevalence of EDMD is unknown. The X-linked form is estimated to affect 1 in 100,000 people in the general population. EDMD is believed to be the third most common form of muscular dystrophy. X-linked EDMD is fully expressed in males only. Approximately 10-20 percent of female carriers for X-linked EDMD will develop heart conduction defects and/or muscle weakness. The autosomal dominant and recessive forms of EDMD affect males and females in equal numbers.Approximately 250,000 individuals in the United States are affected by some form of muscular dystrophy. | 401 | Emery Dreifuss Muscular Dystrophy |
nord_401_4 | Related disorders of Emery Dreifuss Muscular Dystrophy | Symptoms of the following disorders can be similar to those of EDMD. Comparisons may be useful for a differential diagnosis.The dystrophinopathies are a spectrum of muscle diseases caused by mutations of the mutations of the DMD gene located on the X chromosome. The severe end of the spectrum includes muscles diseases known as Duchenne muscular dystrophy and Becker muscular dystrophy. Duchenne muscular dystrophy is the most prevalent form of childhood muscular dystrophy. The disorder typically is recognized from approximately age three to six years and has a relatively rapid, progressive disease course. Duchenne muscular dystrophy is initially characterized by muscle weakness and wasting (atrophy) within the pelvic area that may be followed by involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve most major muscles of the body. Becker muscular dystrophy usually begins during the second or third decade of life. This slowly progressive disorder affects males almost exclusively. Muscles of the hips and shoulders are weakened, walking abnormalities develop, and mild mental retardation may be present. Eventually, other more severe symptoms may involve the heart and lungs. Both Duchenne and Becker muscular dystrophy are inherited as X-linked recessive traits. (For more information about these disorders, choose “Duchenne or Becker” as your search in the Rare Disease Database.)Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder. Symptom onset usually occurs in adolescence or early adulthood; however, less commonly, symptoms may become apparent as early as infancy or early childhood. The disorder is typically initially characterized by weakness of facial, shoulder, and/or upper arm muscles. Associated abnormalities may include an impaired ability to completely close the eyes, limited movements of the lips, and difficulties raising the arms over the head. Affected individuals may also eventually develop weakness and associated wasting (atrophy) of muscles of the hips and thighs and/or involvement of lower leg muscles. Although the disease course may be variable, FSHD is most typically characterized by relatively slow disease progression. Specific symptoms and findings may also vary in range and severity, including among affected members of the same family (kindred). FSHD is usually inherited as an autosomal dominant trait. However, in up to approximately 30 percent of affected individuals, there is no apparent family history of the disorder. In some of these cases, FSHD may be due to new genetic changes (mutations) that appear to occur spontaneously for unknown reasons (sporadically). (For more information on this disorder, choose “facioscapulohumeral muscular dystrophy” as your search term in the Rare Disease Database.)Limb-girdle muscular dystrophy (LGMD) is a generic term for a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body. Approximately 15 different subtypes have been identified based upon abnormal changes (mutations) of certain genes. The age of onset, severity, and progression of symptoms of these subtypes varies greatly even among individuals in the same family. Some individuals may have a mild, slowly progressive form of the disorders; other may have a rapidly progressive form of the disorder that causes severe disability. The term limb-girdle muscular dystrophy is a general term that encompasses several disorders. These disorders can now be distinguished by genetic and protein analysis. At least 15 subtypes have been identified. The various forms of LGMD may be inherited as an autosomal dominant or recessive trait. Autosomal dominant LGMD is known as LGMD1 and has five subtypes (LGMDA-E). Autosomal recessive LGMD is known as LGMD2 and has 10 subtypes (LGMDA-J). Interestingly, one of the genes responsible for LGMD is LMNA, encoding lamins A/C, which can also cause EDMD, indicating the close interplay between muscular dystrophies caused by mutations in nuclear envelope proteins.
(For more information on this disorder, choose “limb-girdle muscular dystrophy” as your search term in the Rare Disease Database.)Rigid spine syndrome is a rare neuromuscular disorder characterized by abnormal rigidity of the spine. Symptoms may include loss of muscle tone (hypotonia), muscle weakness, joints that are fixed in a flexed or extended position (contractures) and degeneration (atrophy) of muscles. Affected individuals often have abnormal side-to-side curvature of the spine (scoliosis). Rigid spine syndrome often occurs in association with other congenital neuromuscular disorders such as Emery-Dreifuss muscular dystrophy. The exact cause of rigid spine syndrome is unknown.Additional forms of muscle disease (myopathy) are considered differential diagnoses for LGMD including metabolic myopathies such as Pompe disease; inflammatory myopathies such as dermatomyositis or polymyositis; and distinct congenital myopathies such as nemaline myopathy. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.) | Related disorders of Emery Dreifuss Muscular Dystrophy. Symptoms of the following disorders can be similar to those of EDMD. Comparisons may be useful for a differential diagnosis.The dystrophinopathies are a spectrum of muscle diseases caused by mutations of the mutations of the DMD gene located on the X chromosome. The severe end of the spectrum includes muscles diseases known as Duchenne muscular dystrophy and Becker muscular dystrophy. Duchenne muscular dystrophy is the most prevalent form of childhood muscular dystrophy. The disorder typically is recognized from approximately age three to six years and has a relatively rapid, progressive disease course. Duchenne muscular dystrophy is initially characterized by muscle weakness and wasting (atrophy) within the pelvic area that may be followed by involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve most major muscles of the body. Becker muscular dystrophy usually begins during the second or third decade of life. This slowly progressive disorder affects males almost exclusively. Muscles of the hips and shoulders are weakened, walking abnormalities develop, and mild mental retardation may be present. Eventually, other more severe symptoms may involve the heart and lungs. Both Duchenne and Becker muscular dystrophy are inherited as X-linked recessive traits. (For more information about these disorders, choose “Duchenne or Becker” as your search in the Rare Disease Database.)Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder. Symptom onset usually occurs in adolescence or early adulthood; however, less commonly, symptoms may become apparent as early as infancy or early childhood. The disorder is typically initially characterized by weakness of facial, shoulder, and/or upper arm muscles. Associated abnormalities may include an impaired ability to completely close the eyes, limited movements of the lips, and difficulties raising the arms over the head. Affected individuals may also eventually develop weakness and associated wasting (atrophy) of muscles of the hips and thighs and/or involvement of lower leg muscles. Although the disease course may be variable, FSHD is most typically characterized by relatively slow disease progression. Specific symptoms and findings may also vary in range and severity, including among affected members of the same family (kindred). FSHD is usually inherited as an autosomal dominant trait. However, in up to approximately 30 percent of affected individuals, there is no apparent family history of the disorder. In some of these cases, FSHD may be due to new genetic changes (mutations) that appear to occur spontaneously for unknown reasons (sporadically). (For more information on this disorder, choose “facioscapulohumeral muscular dystrophy” as your search term in the Rare Disease Database.)Limb-girdle muscular dystrophy (LGMD) is a generic term for a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body. Approximately 15 different subtypes have been identified based upon abnormal changes (mutations) of certain genes. The age of onset, severity, and progression of symptoms of these subtypes varies greatly even among individuals in the same family. Some individuals may have a mild, slowly progressive form of the disorders; other may have a rapidly progressive form of the disorder that causes severe disability. The term limb-girdle muscular dystrophy is a general term that encompasses several disorders. These disorders can now be distinguished by genetic and protein analysis. At least 15 subtypes have been identified. The various forms of LGMD may be inherited as an autosomal dominant or recessive trait. Autosomal dominant LGMD is known as LGMD1 and has five subtypes (LGMDA-E). Autosomal recessive LGMD is known as LGMD2 and has 10 subtypes (LGMDA-J). Interestingly, one of the genes responsible for LGMD is LMNA, encoding lamins A/C, which can also cause EDMD, indicating the close interplay between muscular dystrophies caused by mutations in nuclear envelope proteins.
(For more information on this disorder, choose “limb-girdle muscular dystrophy” as your search term in the Rare Disease Database.)Rigid spine syndrome is a rare neuromuscular disorder characterized by abnormal rigidity of the spine. Symptoms may include loss of muscle tone (hypotonia), muscle weakness, joints that are fixed in a flexed or extended position (contractures) and degeneration (atrophy) of muscles. Affected individuals often have abnormal side-to-side curvature of the spine (scoliosis). Rigid spine syndrome often occurs in association with other congenital neuromuscular disorders such as Emery-Dreifuss muscular dystrophy. The exact cause of rigid spine syndrome is unknown.Additional forms of muscle disease (myopathy) are considered differential diagnoses for LGMD including metabolic myopathies such as Pompe disease; inflammatory myopathies such as dermatomyositis or polymyositis; and distinct congenital myopathies such as nemaline myopathy. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.) | 401 | Emery Dreifuss Muscular Dystrophy |
nord_401_5 | Diagnosis of Emery Dreifuss Muscular Dystrophy | A diagnosis of X-linked EDMD is based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms (contractures, myopathy, heart defects, etc.), surgical removal and microscopic study (biopsy) of affected tissue, and specialized tests such as immunodetection and molecular genetic testing.Through immunodetection, physicians can determine the presence and levels of certain proteins such as emerin in tissue samples obtained from affected individuals. Various techniques such as immunofluorescence or Western blot can be used. These tests involve the use of certain antibodies that react to certain proteins. Samples taken from tissue biopsies are exposed to these antibodies and the results can determine whether a specific protein such as emerin is present and in what quantity. In approximately 95 percent of individuals with X-linked EDMD emerin is absent.Molecular genetic testing involves the examination of deoxyribonucleic acid (DNA) to identify specific a genetic mutation.The diagnosis of autosomal dominant or recessive EDMD is based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings, and molecular genetic testing. Immunodetection cannot be used to aid in the diagnosis of the autosomal forms of EDMD because the associated proteins, lamin A and C, are not absent in affected individuals. However, mislocalization of emerin, i.e., an abnormal distribution of emerin within the cell, can often be indicative of mutations in lamins A and C.Additional tests that may be used to aid in the diagnosis of EDMD include specialized blood tests and a test that assesses the health of muscles and the nerves that control muscles (electromyography). Blood tests may reveal elevated levels of the creatine kinase (CK), an enzyme that is often found in abnormally high levels when muscle is damaged. The detection of elevated CK levels can confirm that muscle is damaged or inflamed, but cannot confirm a diagnosis of EDMD.During an electromyography, a needle electrode is inserted through the skin into an affected muscle. The electrode records the electrical activity of the muscle. This record shows how well a muscle responds to the nerves and can determine whether muscle weakness is caused by the muscle themselves or by the nerves that control the muscles. An electromyography can rule out nerve disorders such as motor neuron disease and peripheral neuropathy.Individuals with EDMD may receive an electrocardiogram, a test that records the heart's electrical impulses and may reveal abnormal electrical patterns. | Diagnosis of Emery Dreifuss Muscular Dystrophy. A diagnosis of X-linked EDMD is based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms (contractures, myopathy, heart defects, etc.), surgical removal and microscopic study (biopsy) of affected tissue, and specialized tests such as immunodetection and molecular genetic testing.Through immunodetection, physicians can determine the presence and levels of certain proteins such as emerin in tissue samples obtained from affected individuals. Various techniques such as immunofluorescence or Western blot can be used. These tests involve the use of certain antibodies that react to certain proteins. Samples taken from tissue biopsies are exposed to these antibodies and the results can determine whether a specific protein such as emerin is present and in what quantity. In approximately 95 percent of individuals with X-linked EDMD emerin is absent.Molecular genetic testing involves the examination of deoxyribonucleic acid (DNA) to identify specific a genetic mutation.The diagnosis of autosomal dominant or recessive EDMD is based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings, and molecular genetic testing. Immunodetection cannot be used to aid in the diagnosis of the autosomal forms of EDMD because the associated proteins, lamin A and C, are not absent in affected individuals. However, mislocalization of emerin, i.e., an abnormal distribution of emerin within the cell, can often be indicative of mutations in lamins A and C.Additional tests that may be used to aid in the diagnosis of EDMD include specialized blood tests and a test that assesses the health of muscles and the nerves that control muscles (electromyography). Blood tests may reveal elevated levels of the creatine kinase (CK), an enzyme that is often found in abnormally high levels when muscle is damaged. The detection of elevated CK levels can confirm that muscle is damaged or inflamed, but cannot confirm a diagnosis of EDMD.During an electromyography, a needle electrode is inserted through the skin into an affected muscle. The electrode records the electrical activity of the muscle. This record shows how well a muscle responds to the nerves and can determine whether muscle weakness is caused by the muscle themselves or by the nerves that control the muscles. An electromyography can rule out nerve disorders such as motor neuron disease and peripheral neuropathy.Individuals with EDMD may receive an electrocardiogram, a test that records the heart's electrical impulses and may reveal abnormal electrical patterns. | 401 | Emery Dreifuss Muscular Dystrophy |
nord_401_6 | Therapies of Emery Dreifuss Muscular Dystrophy | TreatmentNo specific treatment exists for EDMD. Treatment is aimed at the specific symptoms present in each individual. Treatment options may include physical therapy and active and passive exercise to build muscle strength and prevent contractures. Surgery may be recommended in some cases to treat contractures or scoliosis. The use of mechanical aids (e.g., canes, braces, and wheelchairs) may become necessary to aid walking (ambulation).Clinical Testing and Work-UpChildren diagnosed with EDMD should be monitored regularly for potential heart involvement. In the case of serious heart involvement, cardiac pacemakers may be implanted and treatment with antiarrhythmic drugs may become necessary.Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive. | Therapies of Emery Dreifuss Muscular Dystrophy. TreatmentNo specific treatment exists for EDMD. Treatment is aimed at the specific symptoms present in each individual. Treatment options may include physical therapy and active and passive exercise to build muscle strength and prevent contractures. Surgery may be recommended in some cases to treat contractures or scoliosis. The use of mechanical aids (e.g., canes, braces, and wheelchairs) may become necessary to aid walking (ambulation).Clinical Testing and Work-UpChildren diagnosed with EDMD should be monitored regularly for potential heart involvement. In the case of serious heart involvement, cardiac pacemakers may be implanted and treatment with antiarrhythmic drugs may become necessary.Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive. | 401 | Emery Dreifuss Muscular Dystrophy |
nord_402_0 | Overview of Emphysema, Congenital Lobar | Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases of congenital lobar emphysema may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic). | Overview of Emphysema, Congenital Lobar. Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases of congenital lobar emphysema may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic). | 402 | Emphysema, Congenital Lobar |
nord_402_1 | Symptoms of Emphysema, Congenital Lobar | Congenital lobar emphysema is characterized by (1) difficulty in breathing or very rapid respiration (respiratory distress) in infancy, (2) an enlarged chest due to overinflation of at least one lobe of the lung, (3) compressed normal lung tissue in the section of the lung nearest to the diseased lobe, (4) bluish color of the skin due to a lack of oxygen in the blood (cyanosis), and (5) underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia). Congenital lobar emphysema most often affects the upper lobe of the left lung and, less frequently, the middle right lobe. It may cause the lung tissue to be very fragile and to collapse easily.Experience suggests that the earlier the age of onset of congenital lobar emphysema, the more likely it is that the symptoms will get worse and lung function will degenerate as well. | Symptoms of Emphysema, Congenital Lobar. Congenital lobar emphysema is characterized by (1) difficulty in breathing or very rapid respiration (respiratory distress) in infancy, (2) an enlarged chest due to overinflation of at least one lobe of the lung, (3) compressed normal lung tissue in the section of the lung nearest to the diseased lobe, (4) bluish color of the skin due to a lack of oxygen in the blood (cyanosis), and (5) underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia). Congenital lobar emphysema most often affects the upper lobe of the left lung and, less frequently, the middle right lobe. It may cause the lung tissue to be very fragile and to collapse easily.Experience suggests that the earlier the age of onset of congenital lobar emphysema, the more likely it is that the symptoms will get worse and lung function will degenerate as well. | 402 | Emphysema, Congenital Lobar |
nord_402_2 | Causes of Emphysema, Congenital Lobar | Congenital lobar emphysema may result from unknown causes or it may be inherited. Many cases are sporadic, (unknown causes) but others are transmitted by autosomal dominant genes.Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.Developmentally, congenital lobar emphysema may be the result of abnormally small air sacs (alveoli) in the lung or an unusual structure of the large airways (bronchi). | Causes of Emphysema, Congenital Lobar. Congenital lobar emphysema may result from unknown causes or it may be inherited. Many cases are sporadic, (unknown causes) but others are transmitted by autosomal dominant genes.Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.Developmentally, congenital lobar emphysema may be the result of abnormally small air sacs (alveoli) in the lung or an unusual structure of the large airways (bronchi). | 402 | Emphysema, Congenital Lobar |
nord_402_3 | Affects of Emphysema, Congenital Lobar | About 50% of cases occur in the first four weeks after birth. About 75% of cases are found in infants less than six months of age. This disorder is more common among boys than among girls. | Affects of Emphysema, Congenital Lobar. About 50% of cases occur in the first four weeks after birth. About 75% of cases are found in infants less than six months of age. This disorder is more common among boys than among girls. | 402 | Emphysema, Congenital Lobar |
nord_402_4 | Related disorders of Emphysema, Congenital Lobar | Symptoms of the following disorders can be similar to those of Congenital Lobar Emphysema. Comparisons may be useful for a differential diagnosis:Respiratory Distress Syndrome of the Infant, also called Hyaline Membrane Disease of the Newborn, is characterized by respiratory distress seen especially in premature babies. A clear membrane is found lining the sack like spaces (alveolar) in the lungs and is associated with reduced amounts of lung wetting agents or emulsifier (surfactant). The surfactant is a lipoprotein that stabilizes alveolar volume. When this surfactant is missing the affected infant must be placed on some type of ventilator. Recently new drugs have become available to aid the infant in breathing; Surfactant TA and Human Surf. (For more information on this disorder, choose “Infant Respiratory Distress Syndrome” as your search term in the Rare Disease Database.)Bronchial Asthma is a common respiratory disease marked by many different causes, airway irritability, and airway inflammation. Most of these problems are treatable. Asthma affects 2 to 6 percent of the United States population. It usually begins before the age of ten in about one-half of all patients and occurs twice as often in males as in females.Pneumonia is an infection of the lungs. Symptoms such as fever, cough, large amounts of mucous production (sputum), fluid in the space surrounding the lungs (pleurisy) and/or chills occur. Chest pain, headache, diarrhea, sore throat and fever blisters may also develop. Shortness of breath, difficulty in breathing, decreased exercise tolerance and night sweats are characteristic. Pneumonia frequently occurs in middle-aged to older adults with various underlying diseases. However, it can occur in persons of all ages, statistically most often in winter and early spring. Pneumonia can be caused by various bacteria, viruses, and other infectious agents.Interstitial Pneumonia is a type of primary pneumonia. It involves the spaces and tissues in the lining of the lungs with abnormal increases in these tissues. Major symptoms may include shortness of breath on exertion, coughing and loss of appetite. The symptoms may vary from mild to severe according to the extent of involvement. The patient usually has no fever, and there is usually not an overproduction of mucous. (For more information on this disorder, choose “Interstitial Pneumonia” as your search term in the Rare Disease Database.)Secondary Pulmonary Hypertension is a disorder of the lungs. It rarely occurs on its own and is usually the result of other lung disease or related diseases in other organs. This disorder is characterized by breathing difficulties, especially after exertion. (For more information on this disorder, choose “Secondary Pulmonary Hypertension” as your search term in the Rare Disease Database.)Cor Pulmonale is a term that denotes enlargement of the right ventricle of the heart that occurs as a result of severe lung disease. It is used as a term for pulmonary heart disease which affects both the heart and lungs. A common cause of Cor Pulmonale is massive clotting in the lungs which results in increased pressure in the right ventricle of the heart, usually resulting in heart failure. Other causes may be chronic bronchitis, emphysema, and extensive loss of lung tissue from surgery or injury. Symptoms usually include enlargement of the right side of the heart, difficulty breathing, fainting spells on exertion, and substernal angina pain in the chest. (For more information on this disorder, choose “Cor Pulmonale” as your search term in the Rare Disease Database.)Alpha-1-Antitrypsin Deficiency is characterized by early development of breathing difficulties (Panacinar Emphysema, affecting the whole lung equally). Breathing becomes more and more difficult as lung tissue is destroyed by the overproduction of trypsin. Shortness of breath, chronic cough and frequent lung infections are usually the earliest symptoms. In severe cases symptoms may be present in early childhood or appear in the twenties. Less severe deficiencies of Alpha-1-Antitrypsin may not cause symptoms until the fifties or sixties. (For more information on this disorder, choose “Alpha-1-Antitrypsin Deficiency” as your search term in the Rare Disease Database.) | Related disorders of Emphysema, Congenital Lobar. Symptoms of the following disorders can be similar to those of Congenital Lobar Emphysema. Comparisons may be useful for a differential diagnosis:Respiratory Distress Syndrome of the Infant, also called Hyaline Membrane Disease of the Newborn, is characterized by respiratory distress seen especially in premature babies. A clear membrane is found lining the sack like spaces (alveolar) in the lungs and is associated with reduced amounts of lung wetting agents or emulsifier (surfactant). The surfactant is a lipoprotein that stabilizes alveolar volume. When this surfactant is missing the affected infant must be placed on some type of ventilator. Recently new drugs have become available to aid the infant in breathing; Surfactant TA and Human Surf. (For more information on this disorder, choose “Infant Respiratory Distress Syndrome” as your search term in the Rare Disease Database.)Bronchial Asthma is a common respiratory disease marked by many different causes, airway irritability, and airway inflammation. Most of these problems are treatable. Asthma affects 2 to 6 percent of the United States population. It usually begins before the age of ten in about one-half of all patients and occurs twice as often in males as in females.Pneumonia is an infection of the lungs. Symptoms such as fever, cough, large amounts of mucous production (sputum), fluid in the space surrounding the lungs (pleurisy) and/or chills occur. Chest pain, headache, diarrhea, sore throat and fever blisters may also develop. Shortness of breath, difficulty in breathing, decreased exercise tolerance and night sweats are characteristic. Pneumonia frequently occurs in middle-aged to older adults with various underlying diseases. However, it can occur in persons of all ages, statistically most often in winter and early spring. Pneumonia can be caused by various bacteria, viruses, and other infectious agents.Interstitial Pneumonia is a type of primary pneumonia. It involves the spaces and tissues in the lining of the lungs with abnormal increases in these tissues. Major symptoms may include shortness of breath on exertion, coughing and loss of appetite. The symptoms may vary from mild to severe according to the extent of involvement. The patient usually has no fever, and there is usually not an overproduction of mucous. (For more information on this disorder, choose “Interstitial Pneumonia” as your search term in the Rare Disease Database.)Secondary Pulmonary Hypertension is a disorder of the lungs. It rarely occurs on its own and is usually the result of other lung disease or related diseases in other organs. This disorder is characterized by breathing difficulties, especially after exertion. (For more information on this disorder, choose “Secondary Pulmonary Hypertension” as your search term in the Rare Disease Database.)Cor Pulmonale is a term that denotes enlargement of the right ventricle of the heart that occurs as a result of severe lung disease. It is used as a term for pulmonary heart disease which affects both the heart and lungs. A common cause of Cor Pulmonale is massive clotting in the lungs which results in increased pressure in the right ventricle of the heart, usually resulting in heart failure. Other causes may be chronic bronchitis, emphysema, and extensive loss of lung tissue from surgery or injury. Symptoms usually include enlargement of the right side of the heart, difficulty breathing, fainting spells on exertion, and substernal angina pain in the chest. (For more information on this disorder, choose “Cor Pulmonale” as your search term in the Rare Disease Database.)Alpha-1-Antitrypsin Deficiency is characterized by early development of breathing difficulties (Panacinar Emphysema, affecting the whole lung equally). Breathing becomes more and more difficult as lung tissue is destroyed by the overproduction of trypsin. Shortness of breath, chronic cough and frequent lung infections are usually the earliest symptoms. In severe cases symptoms may be present in early childhood or appear in the twenties. Less severe deficiencies of Alpha-1-Antitrypsin may not cause symptoms until the fifties or sixties. (For more information on this disorder, choose “Alpha-1-Antitrypsin Deficiency” as your search term in the Rare Disease Database.) | 402 | Emphysema, Congenital Lobar |
nord_402_5 | Diagnosis of Emphysema, Congenital Lobar | The extent of disease is determined by radiological investigation, including X-rays, computed-assisted tomography (CAT) and magnetic resonance imaging (MRI). These scans can determine exactly which part of the lung and which lobe of the lung is affected and to what degree.Lung function tests are also valuable studies in helping the doctor determine exactly which part of the lung is affected and if surgery is necessary. | Diagnosis of Emphysema, Congenital Lobar. The extent of disease is determined by radiological investigation, including X-rays, computed-assisted tomography (CAT) and magnetic resonance imaging (MRI). These scans can determine exactly which part of the lung and which lobe of the lung is affected and to what degree.Lung function tests are also valuable studies in helping the doctor determine exactly which part of the lung is affected and if surgery is necessary. | 402 | Emphysema, Congenital Lobar |
nord_402_6 | Therapies of Emphysema, Congenital Lobar | TreatmentTreatment of congenital lobar emphysema depends on the extent of damage to the lungs at the time of diagnosis. When the lung damage is limited, the disease may not cause any adverse affects. However, if the condition seriously affects the patient's ability to breathe, the usual treatment is the surgical removal (resection) of the affected lobe of the lung or the whole lung on the affected side. | Therapies of Emphysema, Congenital Lobar. TreatmentTreatment of congenital lobar emphysema depends on the extent of damage to the lungs at the time of diagnosis. When the lung damage is limited, the disease may not cause any adverse affects. However, if the condition seriously affects the patient's ability to breathe, the usual treatment is the surgical removal (resection) of the affected lobe of the lung or the whole lung on the affected side. | 402 | Emphysema, Congenital Lobar |
nord_403_0 | Overview of Empty Sella Syndrome | Empty sella syndrome is a rare disorder characterized by enlargement or malformation of a structure in the skull known as the sella turcica. The sella turcica is a saddle-shaped depression located in the bone at the base of skull (sphenoid bone), in which resides the pituitary gland. In empty sella syndrome, the sella turcica is either partially filled with cerebrospinal fluid and a very small associated pituitary gland lying in the floor of the sella (partially empty sella) or completely filled with cerebrospinal fluid with no visualized pituitary gland (completely empty sella). Most individuals with empty sella syndrome do not have any associated symptoms, but the finding raises concerns about hormone deficiencies. Empty sella syndrome may occur as a primary disorder, for which the cause is unknown (idiopathic), or as a secondary disorder, in which it occurs due to an underlying condition or disorder such as a treated pituitary tumor, head trauma, or a condition known as idiopathic intracranial hypertension (also called pseudotumor cerebri) during which elevated intracranial pressure causes empty sella syndrome. | Overview of Empty Sella Syndrome. Empty sella syndrome is a rare disorder characterized by enlargement or malformation of a structure in the skull known as the sella turcica. The sella turcica is a saddle-shaped depression located in the bone at the base of skull (sphenoid bone), in which resides the pituitary gland. In empty sella syndrome, the sella turcica is either partially filled with cerebrospinal fluid and a very small associated pituitary gland lying in the floor of the sella (partially empty sella) or completely filled with cerebrospinal fluid with no visualized pituitary gland (completely empty sella). Most individuals with empty sella syndrome do not have any associated symptoms, but the finding raises concerns about hormone deficiencies. Empty sella syndrome may occur as a primary disorder, for which the cause is unknown (idiopathic), or as a secondary disorder, in which it occurs due to an underlying condition or disorder such as a treated pituitary tumor, head trauma, or a condition known as idiopathic intracranial hypertension (also called pseudotumor cerebri) during which elevated intracranial pressure causes empty sella syndrome. | 403 | Empty Sella Syndrome |
nord_403_1 | Symptoms of Empty Sella Syndrome | The symptoms of empty sella syndrome may vary from one person to another and depends on the underlying cause. In most cases, especially in individuals with primary empty sella syndrome, there are no associated symptoms (asymptomatic). Often, empty sella syndrome is discovered incidentally on CT or MRI examination when individuals are being evaluated for other reasons.The most common symptom potentially associated with empty sella syndrome is chronic headaches. However, it is unknown whether headaches develop because of empty sella syndrome or are simply a coincidental finding. Many individuals with empty sella syndrome have high blood pressure (hypertension), which can itself cause headaches if severe.In rare cases, individuals with empty sella syndrome have developed increased pressure within the skull (benign intracranial pressure), leakage of cerebrospinal fluid from the nose (cerebrospinal rhinnorhea), swelling of the optic disc due to increased cranial pressure (papilledema), and abnormalities affecting vision such as loss of clarity of vision (visual acuity).In the empty sella syndrome, the function of the pituitary gland is usually not affected. It is often not well seen on imaging, but is otherwise perfectly functional. The pituitary is a small gland located near the base of the skull that stores several critical hormones and releases them into the bloodstream as needed by the body. These hormones regulate many different bodily functions. Although a rare occurrence, some abnormal or decreased pituitary function can occur (hypopituitarism) in the setting of empty sella. A specific finding in some individuals with empty sella, including children, has been isolated growth hormone deficiency.Individuals with secondary empty sella syndrome are more likely to develop abnormalities affecting vision and decreased function of the pituitary because the underlying cause of their empty sella (e.g.treated pituitary tumor or trauma) result in these other associated problems. | Symptoms of Empty Sella Syndrome. The symptoms of empty sella syndrome may vary from one person to another and depends on the underlying cause. In most cases, especially in individuals with primary empty sella syndrome, there are no associated symptoms (asymptomatic). Often, empty sella syndrome is discovered incidentally on CT or MRI examination when individuals are being evaluated for other reasons.The most common symptom potentially associated with empty sella syndrome is chronic headaches. However, it is unknown whether headaches develop because of empty sella syndrome or are simply a coincidental finding. Many individuals with empty sella syndrome have high blood pressure (hypertension), which can itself cause headaches if severe.In rare cases, individuals with empty sella syndrome have developed increased pressure within the skull (benign intracranial pressure), leakage of cerebrospinal fluid from the nose (cerebrospinal rhinnorhea), swelling of the optic disc due to increased cranial pressure (papilledema), and abnormalities affecting vision such as loss of clarity of vision (visual acuity).In the empty sella syndrome, the function of the pituitary gland is usually not affected. It is often not well seen on imaging, but is otherwise perfectly functional. The pituitary is a small gland located near the base of the skull that stores several critical hormones and releases them into the bloodstream as needed by the body. These hormones regulate many different bodily functions. Although a rare occurrence, some abnormal or decreased pituitary function can occur (hypopituitarism) in the setting of empty sella. A specific finding in some individuals with empty sella, including children, has been isolated growth hormone deficiency.Individuals with secondary empty sella syndrome are more likely to develop abnormalities affecting vision and decreased function of the pituitary because the underlying cause of their empty sella (e.g.treated pituitary tumor or trauma) result in these other associated problems. | 403 | Empty Sella Syndrome |
nord_403_2 | Causes of Empty Sella Syndrome | The exact, underlying cause of primary empty sella syndrome is unknown (idiopathic).Researchers believe that a defect in the diaphragma sellae that is present at birth (congenital defect) plays a role in the development of primary empty sella syndrome. The diaphragma sellae is a fold of dura mater (the outermost layer of the membranes that line the brain and spinal cord). The diaphragma sellae covers the sphenoid bone where the sella turcica and the pituitary are located. In some affected individuals a tear in the diaphragma sellae allows the underlying membranes to push through (herniate), which allows cerebrospinal fluid to leak out and accumulate in the sella turcica. The pressure exerted by the fluid can flatten or enlarge the sella turcica. Consequently, the pituitary becomes compressed and flattened as well. In some individuals with primary empty sella syndrome the diaphragma sellae is absent at birth. The exact role that defects in the diaphragma sella play is the development of primary empty sella syndrome is unknown. Whether it causes primary empty sella syndrome directly, occurs as part of a larger disease process or is only a predisposing factor to the development of the disorder is unresolved.Secondary empty sella syndrome is caused by a variety of different conditions including injury or trauma to the head, treated pituitary tumors, infection, radiation therapy, surgery on the pituitary region, or rare disorders such as Sheehan syndrome. | Causes of Empty Sella Syndrome. The exact, underlying cause of primary empty sella syndrome is unknown (idiopathic).Researchers believe that a defect in the diaphragma sellae that is present at birth (congenital defect) plays a role in the development of primary empty sella syndrome. The diaphragma sellae is a fold of dura mater (the outermost layer of the membranes that line the brain and spinal cord). The diaphragma sellae covers the sphenoid bone where the sella turcica and the pituitary are located. In some affected individuals a tear in the diaphragma sellae allows the underlying membranes to push through (herniate), which allows cerebrospinal fluid to leak out and accumulate in the sella turcica. The pressure exerted by the fluid can flatten or enlarge the sella turcica. Consequently, the pituitary becomes compressed and flattened as well. In some individuals with primary empty sella syndrome the diaphragma sellae is absent at birth. The exact role that defects in the diaphragma sella play is the development of primary empty sella syndrome is unknown. Whether it causes primary empty sella syndrome directly, occurs as part of a larger disease process or is only a predisposing factor to the development of the disorder is unresolved.Secondary empty sella syndrome is caused by a variety of different conditions including injury or trauma to the head, treated pituitary tumors, infection, radiation therapy, surgery on the pituitary region, or rare disorders such as Sheehan syndrome. | 403 | Empty Sella Syndrome |
nord_403_3 | Affects of Empty Sella Syndrome | Primary empty sella syndrome affects approximately 4 times more women than men. Most cases occur in middle-aged women who are obese and have high blood pressure (hypertension). Because most people with empty sella syndrome do not have symptoms and may go undiagnosed, determining the disorder’s true frequency in the general population is difficult. Some researchers have estimated that less than 1 percent of individuals with empty sella syndrome ultimately develop symptoms associated with the disorder, although this may be higher in men compared to women. | Affects of Empty Sella Syndrome. Primary empty sella syndrome affects approximately 4 times more women than men. Most cases occur in middle-aged women who are obese and have high blood pressure (hypertension). Because most people with empty sella syndrome do not have symptoms and may go undiagnosed, determining the disorder’s true frequency in the general population is difficult. Some researchers have estimated that less than 1 percent of individuals with empty sella syndrome ultimately develop symptoms associated with the disorder, although this may be higher in men compared to women. | 403 | Empty Sella Syndrome |
nord_403_4 | Related disorders of Empty Sella Syndrome | Related disorders of Empty Sella Syndrome. | 403 | Empty Sella Syndrome |
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nord_403_5 | Diagnosis of Empty Sella Syndrome | A diagnosis of empty sella syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and specialized imaging techniques. Imaging may include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs, tissues and structures such as the sella turcica. | Diagnosis of Empty Sella Syndrome. A diagnosis of empty sella syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and specialized imaging techniques. Imaging may include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs, tissues and structures such as the sella turcica. | 403 | Empty Sella Syndrome |
nord_403_6 | Therapies of Empty Sella Syndrome | Treatment
Most individuals with empty sella syndrome do not have any symptoms and do not require treatment. When symptoms do occur, treatment is directed toward the specific symptoms that are apparent in each individual. If the pituitary is affected, then replacement therapy for specific hormones should be administered as needed. Surgery may be necessary when cerebrospinal fluid leaks from the nose (CSF rhinnorhea). | Therapies of Empty Sella Syndrome. Treatment
Most individuals with empty sella syndrome do not have any symptoms and do not require treatment. When symptoms do occur, treatment is directed toward the specific symptoms that are apparent in each individual. If the pituitary is affected, then replacement therapy for specific hormones should be administered as needed. Surgery may be necessary when cerebrospinal fluid leaks from the nose (CSF rhinnorhea). | 403 | Empty Sella Syndrome |
nord_404_0 | Overview of Encephalitis, Herpes Simplex | Herpes simplex encephalitis (HSE) is a rare neurological disorder characterized by inflammation of the brain (encephalitis). Common symptoms include headaches, fevers, drowsiness, hyperactivity, and/or general weakness. The disorder may have some symptoms similar to those associated with meningitis, such as a stiff neck, altered reflexes, confusion, and/or speech abnormalities. Skin lesions usually are not found in association with herpes simplex encephalitis. Herpes simplex encephalitis is caused by a virus known as herpes simplex virus (HSV). | Overview of Encephalitis, Herpes Simplex. Herpes simplex encephalitis (HSE) is a rare neurological disorder characterized by inflammation of the brain (encephalitis). Common symptoms include headaches, fevers, drowsiness, hyperactivity, and/or general weakness. The disorder may have some symptoms similar to those associated with meningitis, such as a stiff neck, altered reflexes, confusion, and/or speech abnormalities. Skin lesions usually are not found in association with herpes simplex encephalitis. Herpes simplex encephalitis is caused by a virus known as herpes simplex virus (HSV). | 404 | Encephalitis, Herpes Simplex |
nord_404_1 | Symptoms of Encephalitis, Herpes Simplex | Symptoms associated with herpes simplex encephalitis usually develop over several days, often without warning. Early symptoms include headaches, fevers, and seizures. Additional symptoms include drowsiness with general weakness (stupor), and confusion or disorientation. After the initial symptoms appear, affected individuals may develop speech abnormalities such as a diminished ability to communicate by speech, writing, and/or signs (aphasia), absence of the sense of smell (anosmia), and memory loss. In some cases, behavioral changes such as hyperactivity or psychotic episodes occur. Some symptoms of herpes simplex encephalitis may mimic meningitis. These symptoms may include a stiff neck, altered reflexes, confusion, convulsions, and paralysis. Individuals with herpes simplex encephalitis may develop more severe symptoms, including loss of consciousness, hallucinations, and partial paralysis (hemiparesis). In some rare cases, herpes simplex encephalitis may affect the nerve-rich membrane lining the eyes (retina), resulting in inflammation of the retina (retinitis). | Symptoms of Encephalitis, Herpes Simplex. Symptoms associated with herpes simplex encephalitis usually develop over several days, often without warning. Early symptoms include headaches, fevers, and seizures. Additional symptoms include drowsiness with general weakness (stupor), and confusion or disorientation. After the initial symptoms appear, affected individuals may develop speech abnormalities such as a diminished ability to communicate by speech, writing, and/or signs (aphasia), absence of the sense of smell (anosmia), and memory loss. In some cases, behavioral changes such as hyperactivity or psychotic episodes occur. Some symptoms of herpes simplex encephalitis may mimic meningitis. These symptoms may include a stiff neck, altered reflexes, confusion, convulsions, and paralysis. Individuals with herpes simplex encephalitis may develop more severe symptoms, including loss of consciousness, hallucinations, and partial paralysis (hemiparesis). In some rare cases, herpes simplex encephalitis may affect the nerve-rich membrane lining the eyes (retina), resulting in inflammation of the retina (retinitis). | 404 | Encephalitis, Herpes Simplex |
nord_404_2 | Causes of Encephalitis, Herpes Simplex | Herpes simplex encephalitis is a complication of infection with the herpes simplex virus. In most cases, the disorder results from herpes simplex virus type I (HSV-I). In rare cases, usually in newborns (neonatals), the disorder is caused by herpes simplex virus type II (HSV-II). Herpes simplex infection is an acute viral disease usually spread from person to person. It is marked by small fluid-filled blisters appearing on the lips or genitals often accompanied by fever. Herpes simplex encephalitis rarely occurs in conjunction with oral or genital lesions. The herpes virus may become immediately active or remain in the body in an inactive (dormant or latent) state. After being active, the virus may become inactive and then recur (reactivate). Symptoms associated with herpes simplex encephalitis may occur due to tissue degeneration associated with bleeding (hemorrhagic necrosis) of a tongue-shaped lobe (i.e., temporal lobe) of the cerebral hemisphere. | Causes of Encephalitis, Herpes Simplex. Herpes simplex encephalitis is a complication of infection with the herpes simplex virus. In most cases, the disorder results from herpes simplex virus type I (HSV-I). In rare cases, usually in newborns (neonatals), the disorder is caused by herpes simplex virus type II (HSV-II). Herpes simplex infection is an acute viral disease usually spread from person to person. It is marked by small fluid-filled blisters appearing on the lips or genitals often accompanied by fever. Herpes simplex encephalitis rarely occurs in conjunction with oral or genital lesions. The herpes virus may become immediately active or remain in the body in an inactive (dormant or latent) state. After being active, the virus may become inactive and then recur (reactivate). Symptoms associated with herpes simplex encephalitis may occur due to tissue degeneration associated with bleeding (hemorrhagic necrosis) of a tongue-shaped lobe (i.e., temporal lobe) of the cerebral hemisphere. | 404 | Encephalitis, Herpes Simplex |
nord_404_3 | Affects of Encephalitis, Herpes Simplex | Herpes simplex encephalitis usually occurs during early childhood or adulthood. It affects males and females in equal numbers. The disorder is the most common form of acute encephalitis in the United States with approximately 2,000 cases occurring per year. It accounts for 10 percent of all cases of encephalitis in the United States per year. | Affects of Encephalitis, Herpes Simplex. Herpes simplex encephalitis usually occurs during early childhood or adulthood. It affects males and females in equal numbers. The disorder is the most common form of acute encephalitis in the United States with approximately 2,000 cases occurring per year. It accounts for 10 percent of all cases of encephalitis in the United States per year. | 404 | Encephalitis, Herpes Simplex |
nord_404_4 | Related disorders of Encephalitis, Herpes Simplex | Symptoms of the following disorders can be similar to those of herpes simplex encephalitis. Comparisons may be useful for a differential diagnosis:Encephalitis is an inflammation of the brain. There are several different types of encephalitis that differ in cause, parts of the body affected, severity, and areas of the world where they occur. The symptoms of these disorders may also overlap with or resemble other infectious disorders. Symptoms common to all forms of encephalitis include fever, fatigue, drowsiness, and confusion. Causes of encephalitis include herpes simplex virus, varicella zoster virus, arboviruses, and enteroviruses. Encephalitis may also occur secondary to other disorders.Meningitis is a disorder characterized by inflammation of the membranes surrounding the brain and spinal cord. There are many types of meningitis, caused by many different infectious agents. The infection can range from mild to severe. Meningitis may also accompany other infections such as herpes simplex encephalitis. Symptoms may include fever, headaches, nausea, vomiting, and stiff neck. (For more information on this disorder, choose “meningitis” as your search term in the Rare Disease Database.)Neurosyphilis occurs when the syphilis bacterium spreads to the central nervous system. Syphilis is a chronic infectious disease caused by a bacterium (microorganism) (treponema pallidum). Affected individuals may not develop any associated symptoms. In some cases, individuals will experience seizures, headaches, fevers, stiff neck, dementia, and behavioral abnormalities. (For more information, choose “syphilis” as your search term in the Rare Disease Database). | Related disorders of Encephalitis, Herpes Simplex. Symptoms of the following disorders can be similar to those of herpes simplex encephalitis. Comparisons may be useful for a differential diagnosis:Encephalitis is an inflammation of the brain. There are several different types of encephalitis that differ in cause, parts of the body affected, severity, and areas of the world where they occur. The symptoms of these disorders may also overlap with or resemble other infectious disorders. Symptoms common to all forms of encephalitis include fever, fatigue, drowsiness, and confusion. Causes of encephalitis include herpes simplex virus, varicella zoster virus, arboviruses, and enteroviruses. Encephalitis may also occur secondary to other disorders.Meningitis is a disorder characterized by inflammation of the membranes surrounding the brain and spinal cord. There are many types of meningitis, caused by many different infectious agents. The infection can range from mild to severe. Meningitis may also accompany other infections such as herpes simplex encephalitis. Symptoms may include fever, headaches, nausea, vomiting, and stiff neck. (For more information on this disorder, choose “meningitis” as your search term in the Rare Disease Database.)Neurosyphilis occurs when the syphilis bacterium spreads to the central nervous system. Syphilis is a chronic infectious disease caused by a bacterium (microorganism) (treponema pallidum). Affected individuals may not develop any associated symptoms. In some cases, individuals will experience seizures, headaches, fevers, stiff neck, dementia, and behavioral abnormalities. (For more information, choose “syphilis” as your search term in the Rare Disease Database). | 404 | Encephalitis, Herpes Simplex |
nord_404_5 | Diagnosis of Encephalitis, Herpes Simplex | A diagnosis of idiopathic herpes simplex encephalitis is made based upon a detailed patient history, a thorough clinical evaluation, identification of classic symptoms, and a variety of specialized tests. These tests include polymerase chain reaction (PCR) in cerebrospinal fluid (CSF), which may confirm infection of CSF with the herpes simplex virus. In some cases, advanced imaging techniques such as computed tomography and magnetic resonance imaging (MRI) can also be beneficial in diagnosing a case of herpes simplex encephalitis. | Diagnosis of Encephalitis, Herpes Simplex. A diagnosis of idiopathic herpes simplex encephalitis is made based upon a detailed patient history, a thorough clinical evaluation, identification of classic symptoms, and a variety of specialized tests. These tests include polymerase chain reaction (PCR) in cerebrospinal fluid (CSF), which may confirm infection of CSF with the herpes simplex virus. In some cases, advanced imaging techniques such as computed tomography and magnetic resonance imaging (MRI) can also be beneficial in diagnosing a case of herpes simplex encephalitis. | 404 | Encephalitis, Herpes Simplex |
nord_404_6 | Therapies of Encephalitis, Herpes Simplex | TreatmentPrompt treatment of individuals with herpes simplex encephalitis is important as it improves the efficiency of treatment options.Treatment with the antiviral drug Zovirax (acyclovir) has resulted in a dramatic improvement of symptoms in most individuals with herpes simplex encephalitis. It is manufactured by GlaxoSmithKline.Another antiviral drug that has been used to treat herpes simplex encephalitis is vidarabine. However, antiviral therapy may not benefit affected individuals in advanced stages of the infection. Antiviral therapy should be started as soon as herpes simplex encephalitis is suspected.Seizures that are often associated with herpes simplex encephalitis may be treated with drugs that reduce, prevent, or suppress seizures (anticonvulsants). | Therapies of Encephalitis, Herpes Simplex. TreatmentPrompt treatment of individuals with herpes simplex encephalitis is important as it improves the efficiency of treatment options.Treatment with the antiviral drug Zovirax (acyclovir) has resulted in a dramatic improvement of symptoms in most individuals with herpes simplex encephalitis. It is manufactured by GlaxoSmithKline.Another antiviral drug that has been used to treat herpes simplex encephalitis is vidarabine. However, antiviral therapy may not benefit affected individuals in advanced stages of the infection. Antiviral therapy should be started as soon as herpes simplex encephalitis is suspected.Seizures that are often associated with herpes simplex encephalitis may be treated with drugs that reduce, prevent, or suppress seizures (anticonvulsants). | 404 | Encephalitis, Herpes Simplex |
nord_405_0 | Overview of Encephalitis, Japanese | Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurological damage or death. | Overview of Encephalitis, Japanese. Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurological damage or death. | 405 | Encephalitis, Japanese |
nord_405_1 | Symptoms of Encephalitis, Japanese | Japanese Encephalitis is a rare viral disorder characterized by high fever, headaches, weakness, nausea, vomiting, mental deterioration, personality changes, psychoses, impaired speech, spastic rigidity, and paralysis of the face or extremities. In adults, paralysis may occur on both sides of the body without altered sensation. The duration of symptoms can vary widely and convalescence may be prolonged. Some affected individuals may experience swelling and small areas of bleeding within the brain. Wasting away (atrophy) of brain and nerve cells may also occur. The immune system is also weakened by the virus, potentially making affected individuals vulnerable to more serious infections. | Symptoms of Encephalitis, Japanese. Japanese Encephalitis is a rare viral disorder characterized by high fever, headaches, weakness, nausea, vomiting, mental deterioration, personality changes, psychoses, impaired speech, spastic rigidity, and paralysis of the face or extremities. In adults, paralysis may occur on both sides of the body without altered sensation. The duration of symptoms can vary widely and convalescence may be prolonged. Some affected individuals may experience swelling and small areas of bleeding within the brain. Wasting away (atrophy) of brain and nerve cells may also occur. The immune system is also weakened by the virus, potentially making affected individuals vulnerable to more serious infections. | 405 | Encephalitis, Japanese |
nord_405_2 | Causes of Encephalitis, Japanese | Japanese Encephalitis is caused by the Japanese B Encephalitis Virus, an arbovirus (mediated via insect bites), and transmitted through the bite of infected mosquitoes. Symptoms occur as the virus directly invades the central nervous system causing selective infection, destruction of nerve cells, and weakening of the immune system. | Causes of Encephalitis, Japanese. Japanese Encephalitis is caused by the Japanese B Encephalitis Virus, an arbovirus (mediated via insect bites), and transmitted through the bite of infected mosquitoes. Symptoms occur as the virus directly invades the central nervous system causing selective infection, destruction of nerve cells, and weakening of the immune system. | 405 | Encephalitis, Japanese |
nord_405_3 | Affects of Encephalitis, Japanese | Japanese Encephalitis occurs in approximately 20,000 people each year. The disorder erupts in the form of epidemics usually during the summer months in India, Bangladesh, the eastern part of Russia, China, Korea, Nepal, Burma, Viet Nam, and northern Thailand. In tropical areas of southeast Asia, southern India, southern Thailand, and Sri Lanka, the disease is present year-round and causes sporadic outbreaks. During the tropical rainy season, the illness can be transmitted in epidemic proportions.Japanese Encephalitis is the leading cause of viral encephalitis in Asia, with approximately 30,000-50,000 cases being reported. Fewer than one case per year is reported among U.S. citizens and military personnel traveling to, or living in, Asia. | Affects of Encephalitis, Japanese. Japanese Encephalitis occurs in approximately 20,000 people each year. The disorder erupts in the form of epidemics usually during the summer months in India, Bangladesh, the eastern part of Russia, China, Korea, Nepal, Burma, Viet Nam, and northern Thailand. In tropical areas of southeast Asia, southern India, southern Thailand, and Sri Lanka, the disease is present year-round and causes sporadic outbreaks. During the tropical rainy season, the illness can be transmitted in epidemic proportions.Japanese Encephalitis is the leading cause of viral encephalitis in Asia, with approximately 30,000-50,000 cases being reported. Fewer than one case per year is reported among U.S. citizens and military personnel traveling to, or living in, Asia. | 405 | Encephalitis, Japanese |
nord_405_4 | Related disorders of Encephalitis, Japanese | Symptoms of the following disorders can be similar to those of Japanese Encephalitis. Comparisons may be useful for a differential diagnosis:Murray Valley Encephalitis is also known as Australian X Disease and is characterized by severe brain inflammation. The virus which causes this disorder is related to the Japanese B virus and is transmitted from mosquitoes to birds to other mosquitoes. Cases among children tend to be most severe. The first noticeable symptoms may be headache, fever, a general feeling of discomfort, drowsiness and/or convulsions, and a stiff neck. Extensive brain damage may result.Saint Louis Encephalitis is characterized by less severe inflammation of the brain and the sheath surrounding the brain and spinal cord. Group B Arbovirus causes this type of Encephalitis in sporadic outbreaks in urban areas of Missouri, Arizona, Colorado, Nevada, Texas, Indiana, Illinois, Kentucky, Florida, New Jersey, Pennsylvania, and the Ohio Valley. This disorder tends to be more prevalent during midsummer to early fall. High fever, headache, nausea, vomiting, tiredness, dizziness, neck stiffness, irritability, confusion, and speech problems may occur.West Nile Encephalitis is also known as West Nile Fever and is characterized by severe headaches, high fever, enlargement of the lymph nodes, and inflammation of the sheath surrounding the brain and spinal cord. Inflammation of the spinal cord may also occur. Symptoms of this disorder may last only a few weeks, but it may cause permanent neurological damage. | Related disorders of Encephalitis, Japanese. Symptoms of the following disorders can be similar to those of Japanese Encephalitis. Comparisons may be useful for a differential diagnosis:Murray Valley Encephalitis is also known as Australian X Disease and is characterized by severe brain inflammation. The virus which causes this disorder is related to the Japanese B virus and is transmitted from mosquitoes to birds to other mosquitoes. Cases among children tend to be most severe. The first noticeable symptoms may be headache, fever, a general feeling of discomfort, drowsiness and/or convulsions, and a stiff neck. Extensive brain damage may result.Saint Louis Encephalitis is characterized by less severe inflammation of the brain and the sheath surrounding the brain and spinal cord. Group B Arbovirus causes this type of Encephalitis in sporadic outbreaks in urban areas of Missouri, Arizona, Colorado, Nevada, Texas, Indiana, Illinois, Kentucky, Florida, New Jersey, Pennsylvania, and the Ohio Valley. This disorder tends to be more prevalent during midsummer to early fall. High fever, headache, nausea, vomiting, tiredness, dizziness, neck stiffness, irritability, confusion, and speech problems may occur.West Nile Encephalitis is also known as West Nile Fever and is characterized by severe headaches, high fever, enlargement of the lymph nodes, and inflammation of the sheath surrounding the brain and spinal cord. Inflammation of the spinal cord may also occur. Symptoms of this disorder may last only a few weeks, but it may cause permanent neurological damage. | 405 | Encephalitis, Japanese |
nord_405_5 | Diagnosis of Encephalitis, Japanese | Diagnosis of Encephalitis, Japanese. | 405 | Encephalitis, Japanese |
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nord_405_6 | Therapies of Encephalitis, Japanese | In Asian nations, vaccinations are available that prevent Japanese Encephalitis. American travelers to areas at risk can obtain the vaccination in the United States. High risk areas include India, Bangladesh, the eastern part of Russia, China, Korea, Nepal, Burma, Viet Nam, northern Thailand, tropical areas of southeast Asia, southern India, southern Thailand, and Sri Lanka.Short-term travelers to Asian urban centers are at low risk to contract this disorder. The mosquitoes which transmit the virus appear in the greatest numbers in rural areas where standing water may be common and are most active at dawn, dusk, and on overcast days. Precautions against mosquito bites such as sleeping in screened quarters under mosquito netting, wearing clothing that adequately covers the skin, and using insect repellents on exposed skin are also advised. Repellents containing over thirty percent active ingredient N,N-diethyl-meta-toluamide ("deet") are recommended. | Therapies of Encephalitis, Japanese. In Asian nations, vaccinations are available that prevent Japanese Encephalitis. American travelers to areas at risk can obtain the vaccination in the United States. High risk areas include India, Bangladesh, the eastern part of Russia, China, Korea, Nepal, Burma, Viet Nam, northern Thailand, tropical areas of southeast Asia, southern India, southern Thailand, and Sri Lanka.Short-term travelers to Asian urban centers are at low risk to contract this disorder. The mosquitoes which transmit the virus appear in the greatest numbers in rural areas where standing water may be common and are most active at dawn, dusk, and on overcast days. Precautions against mosquito bites such as sleeping in screened quarters under mosquito netting, wearing clothing that adequately covers the skin, and using insect repellents on exposed skin are also advised. Repellents containing over thirty percent active ingredient N,N-diethyl-meta-toluamide ("deet") are recommended. | 405 | Encephalitis, Japanese |
nord_406_0 | Overview of Encephalocele | Encephaloceles are rare neurological birth defects characterized by sac-like protrusions of brain tissue, the membranes that cover the brain (meninges) and the clear, watery fluid within the tissues that surround the brain (cerebrospinal fluid) through openings in the skull. Encephaloceles are usually congenital (present from birth) and result from the incomplete closing of the neural tube, a structure during fetal development that folds and normally becomes the brain and spinal cord. In some cases, encephaloceles may be acquired from trauma, tumors or injury caused by medical treatment. Surgery is usually necessary to treat encephaloceles. The exact cause of encephaloceles is unknown, but the disorder most likely results from the combination of several environmental and genetic factors (multifactorial). | Overview of Encephalocele. Encephaloceles are rare neurological birth defects characterized by sac-like protrusions of brain tissue, the membranes that cover the brain (meninges) and the clear, watery fluid within the tissues that surround the brain (cerebrospinal fluid) through openings in the skull. Encephaloceles are usually congenital (present from birth) and result from the incomplete closing of the neural tube, a structure during fetal development that folds and normally becomes the brain and spinal cord. In some cases, encephaloceles may be acquired from trauma, tumors or injury caused by medical treatment. Surgery is usually necessary to treat encephaloceles. The exact cause of encephaloceles is unknown, but the disorder most likely results from the combination of several environmental and genetic factors (multifactorial). | 406 | Encephalocele |
nord_406_1 | Symptoms of Encephalocele | The signs of an encephalocele depend on the location of the lesion. Some are present as a skin-covered mass near the midline in the head that is filled brain tissue and cerebrospinal fluid. Some encephaloceles protrude into spaces such as the nasal sinuses or the base of the skull and may not have external signs. The symptoms of an encephalocele can vary from one individual to another depending upon many different factors including size, amount of brain tissue protruding from the skull and location and type of tissue that is in the lesion. Encephaloceles that protrude from the skull are usually present at the back of the head, occipital or suboccipital, or near the front of the head. The symptoms of the encephalocele are usually not directly a result of the lesion itself, but the changes that accompany the lesion in the underlying brain because of the loss of brain tissue or effects on the underlying brain structure and development. Patients with encephaloceles can develop seizures, microcephaly (smaller than normal head circumference) and developmental delay. The tissue that is in the encephalocele typically becomes scarred and is no longer functional. If there is an abnormal connection to the outside, such as can occur with anterior encephaloceles between the eyes or in the nasal cavity, lesions can present with nasal obstruction, leakage of cerebrospinal fluid from the nose (cerebrospinal fluid rhinorrhea) or even infection (meningitis). Because encephaloceles protrude through the skull, depending on where the protrusion is and the gap in the skull in that location, the lesion can lead to significant skull defects, facial differences or abnormally large distance between the eyes (hypertelorism). Encephaloceles can result in developmental delays, intellectual disability, learning disabilities and growth delays. Vision impairment, inflammation of the membranes that cover the brain and spinal cord (meningitis, and uncoordinated voluntary movements (ataxia) are also observed. Hydrocephalus, a condition in which excess cerebrospinal fluid in the skull causes pressure on the brain, may occur as well. Hydrocephalus occurs in 60-90% of patients with posterior encephaloceles. Affected individuals may also experience motor abnormalities due to effects on the underlying brain responsible for controlling movement or to increased muscle tone and stiffness (spastic paraplegia). It is important to note that not all affected individuals have all the symptoms discussed above and some children may have normal intelligence, while others experience intellectual disability. The effects are thought to be due to the amount and type of brain tissue that is involved and how the development of the brain tissue not in the encephalocele was affected. In some patients, particularly those that involve the brain stem, these lesions can be life threatening due to effects on breathing and the heart. Parents should talk to their child’s physician and medical team about their specific case, associated symptoms and overall prognosis. | Symptoms of Encephalocele. The signs of an encephalocele depend on the location of the lesion. Some are present as a skin-covered mass near the midline in the head that is filled brain tissue and cerebrospinal fluid. Some encephaloceles protrude into spaces such as the nasal sinuses or the base of the skull and may not have external signs. The symptoms of an encephalocele can vary from one individual to another depending upon many different factors including size, amount of brain tissue protruding from the skull and location and type of tissue that is in the lesion. Encephaloceles that protrude from the skull are usually present at the back of the head, occipital or suboccipital, or near the front of the head. The symptoms of the encephalocele are usually not directly a result of the lesion itself, but the changes that accompany the lesion in the underlying brain because of the loss of brain tissue or effects on the underlying brain structure and development. Patients with encephaloceles can develop seizures, microcephaly (smaller than normal head circumference) and developmental delay. The tissue that is in the encephalocele typically becomes scarred and is no longer functional. If there is an abnormal connection to the outside, such as can occur with anterior encephaloceles between the eyes or in the nasal cavity, lesions can present with nasal obstruction, leakage of cerebrospinal fluid from the nose (cerebrospinal fluid rhinorrhea) or even infection (meningitis). Because encephaloceles protrude through the skull, depending on where the protrusion is and the gap in the skull in that location, the lesion can lead to significant skull defects, facial differences or abnormally large distance between the eyes (hypertelorism). Encephaloceles can result in developmental delays, intellectual disability, learning disabilities and growth delays. Vision impairment, inflammation of the membranes that cover the brain and spinal cord (meningitis, and uncoordinated voluntary movements (ataxia) are also observed. Hydrocephalus, a condition in which excess cerebrospinal fluid in the skull causes pressure on the brain, may occur as well. Hydrocephalus occurs in 60-90% of patients with posterior encephaloceles. Affected individuals may also experience motor abnormalities due to effects on the underlying brain responsible for controlling movement or to increased muscle tone and stiffness (spastic paraplegia). It is important to note that not all affected individuals have all the symptoms discussed above and some children may have normal intelligence, while others experience intellectual disability. The effects are thought to be due to the amount and type of brain tissue that is involved and how the development of the brain tissue not in the encephalocele was affected. In some patients, particularly those that involve the brain stem, these lesions can be life threatening due to effects on breathing and the heart. Parents should talk to their child’s physician and medical team about their specific case, associated symptoms and overall prognosis. | 406 | Encephalocele |
nord_406_2 | Causes of Encephalocele | The exact underlying cause of encephalocele is unknown but is likely linked to both genetic and environmental factors. Most cases occur sporadically because of neural tube defects. The neural tube typically folds and closes early during pregnancy (third or fourth week) to complete the formation of the brain and spinal cord. A neural tube defect occurs when the neural tube does not close completely, which can occur anywhere along the head, neck or spine. The lack of proper closing of the neural tube can lead to a herniation (movement of brain tissue, blood, and cerebrospinal fluid from its normal position in the brain) process which appears as a pedunculated (having a stalk-like base) or sessile (attached directly to its base without a stalk) cystic lesion protruding through a defect in the cranial vault referred as encephalocele. Frontonasal encephaloceles, usually located between the baby's nose and forehead, result from abnormal development of the foramen cecum (a small notch where the frontal crest of the frontal bone ends). Occipital encephaloceles are associated with changes (variants or mutations) the CEP290 (centrosomal protein 290) gene. Most researchers believe that multiple factors are required to develop a neural tube defect that leads to encephalocele. There is a genetic component to the disease, as encephaloceles are more common in individuals who have a family history of neural tube defects such as spina bifida or anencephaly. In such cases, individuals might have a genetic predisposition to developing a neural tube defect and may develop an encephalocele. A person who is genetically predisposed to certain disorders may carry a gene (or genes) for the disease, which may not be expressed unless it is “activated” under certain circumstances, such as exposure to particular environmental factors. TORCH infections (toxoplasma, rubella, cytomegalovirus, herpes simplex virus) have also been implicated in several cases. Additional environmental factors that lead to lower survival rates for infants with encephalocele include preterm (early) birth, low birth weight, presenting multiple birth defects and being black or African American. Lack of nutrition or medical problems in the mother such as diabetes have also been implicated in the development of encephalocele. There is some evidence that exposure to toxic chemicals including certain medicines or aflatoxins can increase the risk of having a baby with an encephalocele. On occasion, encephaloceles can be acquired from trauma, tumors or other injuries. Encephalocele may occur as part of more than 30 different syndromes, including Meckel-Gruber syndrome, Van Voss-Cherries syndrome, Fraser syndrome, Roberts syndrome, Knobloch’s syndrome and Walker-Warburg syndrome. Amniotic band syndrome can also be associated with encephalocele. | Causes of Encephalocele. The exact underlying cause of encephalocele is unknown but is likely linked to both genetic and environmental factors. Most cases occur sporadically because of neural tube defects. The neural tube typically folds and closes early during pregnancy (third or fourth week) to complete the formation of the brain and spinal cord. A neural tube defect occurs when the neural tube does not close completely, which can occur anywhere along the head, neck or spine. The lack of proper closing of the neural tube can lead to a herniation (movement of brain tissue, blood, and cerebrospinal fluid from its normal position in the brain) process which appears as a pedunculated (having a stalk-like base) or sessile (attached directly to its base without a stalk) cystic lesion protruding through a defect in the cranial vault referred as encephalocele. Frontonasal encephaloceles, usually located between the baby's nose and forehead, result from abnormal development of the foramen cecum (a small notch where the frontal crest of the frontal bone ends). Occipital encephaloceles are associated with changes (variants or mutations) the CEP290 (centrosomal protein 290) gene. Most researchers believe that multiple factors are required to develop a neural tube defect that leads to encephalocele. There is a genetic component to the disease, as encephaloceles are more common in individuals who have a family history of neural tube defects such as spina bifida or anencephaly. In such cases, individuals might have a genetic predisposition to developing a neural tube defect and may develop an encephalocele. A person who is genetically predisposed to certain disorders may carry a gene (or genes) for the disease, which may not be expressed unless it is “activated” under certain circumstances, such as exposure to particular environmental factors. TORCH infections (toxoplasma, rubella, cytomegalovirus, herpes simplex virus) have also been implicated in several cases. Additional environmental factors that lead to lower survival rates for infants with encephalocele include preterm (early) birth, low birth weight, presenting multiple birth defects and being black or African American. Lack of nutrition or medical problems in the mother such as diabetes have also been implicated in the development of encephalocele. There is some evidence that exposure to toxic chemicals including certain medicines or aflatoxins can increase the risk of having a baby with an encephalocele. On occasion, encephaloceles can be acquired from trauma, tumors or other injuries. Encephalocele may occur as part of more than 30 different syndromes, including Meckel-Gruber syndrome, Van Voss-Cherries syndrome, Fraser syndrome, Roberts syndrome, Knobloch’s syndrome and Walker-Warburg syndrome. Amniotic band syndrome can also be associated with encephalocele. | 406 | Encephalocele |
nord_406_3 | Affects of Encephalocele | The Centers for Disease Control and Prevention (CDC) estimates that approximately 375 babies are born each year in the United States with an encephalocele. That would be approximately 1 in 10,000 babies each year. About 70% of encephaloceles are in females and 90% involve the midline. Additionally, females are more likely to have an encephalocele in the back (occipital area) of the skull, while males are more likely to have one in the front of the skull. In Western populations, encephaloceles are more common in the back of the skull. In Southeast Asia, they are more common in the front of the skull. Anterior encephaloceles are more common in Asia, Africa and Russia, with 1 case in 3,500 to 6,000 births. | Affects of Encephalocele. The Centers for Disease Control and Prevention (CDC) estimates that approximately 375 babies are born each year in the United States with an encephalocele. That would be approximately 1 in 10,000 babies each year. About 70% of encephaloceles are in females and 90% involve the midline. Additionally, females are more likely to have an encephalocele in the back (occipital area) of the skull, while males are more likely to have one in the front of the skull. In Western populations, encephaloceles are more common in the back of the skull. In Southeast Asia, they are more common in the front of the skull. Anterior encephaloceles are more common in Asia, Africa and Russia, with 1 case in 3,500 to 6,000 births. | 406 | Encephalocele |
nord_406_4 | Related disorders of Encephalocele | Other related disorders include nasal glioma, cranial dermal sinus tract, nasal dermoid cyst, nasal epidermoid, dacryocystitis, dacryocystocele, hemangioma, nasal polyp, Dandy-Walker malformation and Chiari malformation. | Related disorders of Encephalocele. Other related disorders include nasal glioma, cranial dermal sinus tract, nasal dermoid cyst, nasal epidermoid, dacryocystitis, dacryocystocele, hemangioma, nasal polyp, Dandy-Walker malformation and Chiari malformation. | 406 | Encephalocele |
nord_406_5 | Diagnosis of Encephalocele | Most encephaloceles are diagnosed on a routine prenatal ultrasound or seen right away when a baby is born. In some, small encephaloceles may initially go unnoticed but an individual will present symptoms that lead to diagnosis.An ultrasound exam is a routine examination in which reflected sound waves are used to create an image of the developing fetus. An encephalocele may appear as a cyst on an ultrasound examination. If an encephalocele is diagnosed prenatally, further tests may be recommended to detect whether additional abnormalities are present. Such tests can include prenatal magnetic resonance imaging (fetal MRI).A postnatal brain MRI is the preferred method of study because it shows the defect, its contents, the brain tissue and other anomalies. A computed tomographic (CT) scan with three-dimensional reconstruction is used to evaluate the skull defect, bone abnormalities and hydrocephalus. If the defect is close to a group of blood channels that drain blood from the cranial cavity (dural sinus), a CT or MRI angiography (a type of MRI that looks specifically at the body’s blood vessels) can be used. | Diagnosis of Encephalocele. Most encephaloceles are diagnosed on a routine prenatal ultrasound or seen right away when a baby is born. In some, small encephaloceles may initially go unnoticed but an individual will present symptoms that lead to diagnosis.An ultrasound exam is a routine examination in which reflected sound waves are used to create an image of the developing fetus. An encephalocele may appear as a cyst on an ultrasound examination. If an encephalocele is diagnosed prenatally, further tests may be recommended to detect whether additional abnormalities are present. Such tests can include prenatal magnetic resonance imaging (fetal MRI).A postnatal brain MRI is the preferred method of study because it shows the defect, its contents, the brain tissue and other anomalies. A computed tomographic (CT) scan with three-dimensional reconstruction is used to evaluate the skull defect, bone abnormalities and hydrocephalus. If the defect is close to a group of blood channels that drain blood from the cranial cavity (dural sinus), a CT or MRI angiography (a type of MRI that looks specifically at the body’s blood vessels) can be used. | 406 | Encephalocele |
nord_406_6 | Therapies of Encephalocele | Treatment
Surgery is usually necessary for children with encephalocele. Surgery is usually performed sometime between birth and 4 months of age depending upon the size, location and associated complications or whether a layer of skin covers the encephalocele. If a layer of skin is present and acts as a protective cover, surgery can be delayed for a few months. If no layer of skin protects an encephalocele, surgery might be recommended shortly after birth. Sometimes, low blood reserve in small children is considered and surgery is delayed until ages 2-3 if there is no life-threatening condition. Surgery is not done to put the protruding contents of an encephalocele back into the skull. The surgery is performed to prevent further herniation of the tissue and promote healing. The goal of the surgery is to remove the herniated tissue and repair the layers that did not close completely, including the coverings to the brain (the dura), sometimes the skull, and the skin and soft tissues. Closure of the hole in the skull is usually performed in a delayed fashion when the child is older. Endoscopic surgeries are increasingly common for anterior (frontal) encephalocele due to a lower risk. Additional treatment is based on the specific symptoms present in each individual. Craniofacial abnormalities or additional abnormalities of the skull are treated surgically. Hydrocephalus may be treated by surgically implanting a ventriculoperitoneal (VP) shunt that allows excess cerebrospinal fluid to be drained. Services that may be beneficial to the patient may include special remedial education, and other medical, social, and/or vocational services. Genetic counseling is recommended for affected individuals and their families. Prevention
Studies have shown that adding folic acid (a form of B vitamin) to the diet of people who might become pregnant can lower the risk of some neural tube defects, but this has been studied most extensively in patients with neural tube defects that affect the spine and not as much in the brain. The CDC and other health agencies have advocated that females of childbearing age should have 400 micrograms of folic acid daily. Folic acid can be found in leafy green vegetables, nuts, beans and citrus fruits. Folic acid is also included in prenatal vitamins. | Therapies of Encephalocele. Treatment
Surgery is usually necessary for children with encephalocele. Surgery is usually performed sometime between birth and 4 months of age depending upon the size, location and associated complications or whether a layer of skin covers the encephalocele. If a layer of skin is present and acts as a protective cover, surgery can be delayed for a few months. If no layer of skin protects an encephalocele, surgery might be recommended shortly after birth. Sometimes, low blood reserve in small children is considered and surgery is delayed until ages 2-3 if there is no life-threatening condition. Surgery is not done to put the protruding contents of an encephalocele back into the skull. The surgery is performed to prevent further herniation of the tissue and promote healing. The goal of the surgery is to remove the herniated tissue and repair the layers that did not close completely, including the coverings to the brain (the dura), sometimes the skull, and the skin and soft tissues. Closure of the hole in the skull is usually performed in a delayed fashion when the child is older. Endoscopic surgeries are increasingly common for anterior (frontal) encephalocele due to a lower risk. Additional treatment is based on the specific symptoms present in each individual. Craniofacial abnormalities or additional abnormalities of the skull are treated surgically. Hydrocephalus may be treated by surgically implanting a ventriculoperitoneal (VP) shunt that allows excess cerebrospinal fluid to be drained. Services that may be beneficial to the patient may include special remedial education, and other medical, social, and/or vocational services. Genetic counseling is recommended for affected individuals and their families. Prevention
Studies have shown that adding folic acid (a form of B vitamin) to the diet of people who might become pregnant can lower the risk of some neural tube defects, but this has been studied most extensively in patients with neural tube defects that affect the spine and not as much in the brain. The CDC and other health agencies have advocated that females of childbearing age should have 400 micrograms of folic acid daily. Folic acid can be found in leafy green vegetables, nuts, beans and citrus fruits. Folic acid is also included in prenatal vitamins. | 406 | Encephalocele |
nord_407_0 | Overview of Endocardial Fibroelastosis | Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. The normal heart has four chambers. Two chambers, known as atria, are separated from each other by a partition called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum. Valves connect the atria (left and right) to their respective ventricles.The symptoms of endocardial fibroelastosis are related to the overgrowth of fibrous tissues causing abnormal enlargement of the heart (cardiac hypertrophy), especially the left ventricle. Impaired heart and lung function eventually lead to congestive heart failure. Endocardial fibroelastosis may occur for no apparent reason (sporadic) or may be inherited as an X-linked (EFE2) or autosomal recessive (EFE1) genetic trait. | Overview of Endocardial Fibroelastosis. Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. The normal heart has four chambers. Two chambers, known as atria, are separated from each other by a partition called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum. Valves connect the atria (left and right) to their respective ventricles.The symptoms of endocardial fibroelastosis are related to the overgrowth of fibrous tissues causing abnormal enlargement of the heart (cardiac hypertrophy), especially the left ventricle. Impaired heart and lung function eventually lead to congestive heart failure. Endocardial fibroelastosis may occur for no apparent reason (sporadic) or may be inherited as an X-linked (EFE2) or autosomal recessive (EFE1) genetic trait. | 407 | Endocardial Fibroelastosis |
nord_407_1 | Symptoms of Endocardial Fibroelastosis | The symptoms of endocardial fibroelastosis begin rapidly, generally between the ages of 4 and 12 months. Symptoms are due to the overgrowth of fibrous tissue and thickening of the lining of the hearts' chambers (i.e., endocardium and subendocardium), especially the left ventricle. In some very rare cases of EFE, the left ventricle is small (hypoplastic) or of normal size and the right ventricle is enlarged.The most common symptoms of endocardial fibroelastosis include difficulty breathing (dyspnea), breathlessness, grunting sounds during breathing, coughing, irritability, weakness, and/or a pale facial appearance (pallor). Other symptoms may include fatigue, failure to thrive, increased sweating, an abnormal blue skin coloration on the feet and hands (peripheral cyanosis), and/or wheezing.Infants and children with endocardial fibroelastosis may have unusual chest sounds that can be heard during a physician's examination with a stethoscope. Bubbling, moist sounds (rales) suggest fluid accumulation in the airways. Unusual heart sounds (murmurs) are also typically present in children with EFE. Excessive backward flow of blood from the left ventricle, through the mitral valve and into the left atrium (mitral regurgitation) is also a common finding in children with this disorder. Symptoms of mitral regurgitation may include heart palpitation and intolerance to exercise.Life-threatening complications associated with endocardial fibroelastosis may develop, including an abnormally rapid heartbeat (tachycardia), irregular heart rhythms (atrial and ventricular arrhythmias), and/or congestive heart failure (congestive cardiomyopathy). | Symptoms of Endocardial Fibroelastosis. The symptoms of endocardial fibroelastosis begin rapidly, generally between the ages of 4 and 12 months. Symptoms are due to the overgrowth of fibrous tissue and thickening of the lining of the hearts' chambers (i.e., endocardium and subendocardium), especially the left ventricle. In some very rare cases of EFE, the left ventricle is small (hypoplastic) or of normal size and the right ventricle is enlarged.The most common symptoms of endocardial fibroelastosis include difficulty breathing (dyspnea), breathlessness, grunting sounds during breathing, coughing, irritability, weakness, and/or a pale facial appearance (pallor). Other symptoms may include fatigue, failure to thrive, increased sweating, an abnormal blue skin coloration on the feet and hands (peripheral cyanosis), and/or wheezing.Infants and children with endocardial fibroelastosis may have unusual chest sounds that can be heard during a physician's examination with a stethoscope. Bubbling, moist sounds (rales) suggest fluid accumulation in the airways. Unusual heart sounds (murmurs) are also typically present in children with EFE. Excessive backward flow of blood from the left ventricle, through the mitral valve and into the left atrium (mitral regurgitation) is also a common finding in children with this disorder. Symptoms of mitral regurgitation may include heart palpitation and intolerance to exercise.Life-threatening complications associated with endocardial fibroelastosis may develop, including an abnormally rapid heartbeat (tachycardia), irregular heart rhythms (atrial and ventricular arrhythmias), and/or congestive heart failure (congestive cardiomyopathy). | 407 | Endocardial Fibroelastosis |
nord_407_2 | Causes of Endocardial Fibroelastosis | Some cases of endocardial fibroelastosis occur as a result of random changes (mutations), with no apparent cause (sporadic). These cases are known as endocardial fibroelastosis 1 (EFE1). Others cases are thought to be inherited as an X-linked recessive genetic trait. These cases are known as endocardial fibroelastosis 2 (EFE2). In EFE1, neither the chromosome nor the precise location of the mutated gene on that chromosome have been determined. In EFE2, the mutated gene is located on the X chromosome, but its precise location is not known.Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p13” refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females. All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one of the X chromosomes is “turned off” and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is “turned off”. A male has one X chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son. X-linked dominant disorders are also caused by an abnormal gene on the X chromosome, but in these rare conditions, females with an abnormal gene are affected with the disease. Males with an abnormal gene are more severely affected than females, and many of these males do not survive.Other cases of endocardial fibroelastosis are thought to occur in association with other metabolic defects, such as Barth syndrome or carnitine deficiency syndromes. (See Related Disorders section of this report.) | Causes of Endocardial Fibroelastosis. Some cases of endocardial fibroelastosis occur as a result of random changes (mutations), with no apparent cause (sporadic). These cases are known as endocardial fibroelastosis 1 (EFE1). Others cases are thought to be inherited as an X-linked recessive genetic trait. These cases are known as endocardial fibroelastosis 2 (EFE2). In EFE1, neither the chromosome nor the precise location of the mutated gene on that chromosome have been determined. In EFE2, the mutated gene is located on the X chromosome, but its precise location is not known.Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p13” refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females. All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one of the X chromosomes is “turned off” and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is “turned off”. A male has one X chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son. X-linked dominant disorders are also caused by an abnormal gene on the X chromosome, but in these rare conditions, females with an abnormal gene are affected with the disease. Males with an abnormal gene are more severely affected than females, and many of these males do not survive.Other cases of endocardial fibroelastosis are thought to occur in association with other metabolic defects, such as Barth syndrome or carnitine deficiency syndromes. (See Related Disorders section of this report.) | 407 | Endocardial Fibroelastosis |
nord_407_3 | Affects of Endocardial Fibroelastosis | Endocardial fibroelastosis is a rare disorder that affects males and females in equal numbers. Fewer than 1 percent of infants and children with congenital heart disease are diagnosed with this disorder. A 1964 study suggested an incidence of 1 in 5,000 live births. However, in the United States there has been a marked reduction in incidence since then for reasons that are not known. The disorder is extremely rare. | Affects of Endocardial Fibroelastosis. Endocardial fibroelastosis is a rare disorder that affects males and females in equal numbers. Fewer than 1 percent of infants and children with congenital heart disease are diagnosed with this disorder. A 1964 study suggested an incidence of 1 in 5,000 live births. However, in the United States there has been a marked reduction in incidence since then for reasons that are not known. The disorder is extremely rare. | 407 | Endocardial Fibroelastosis |
nord_407_4 | Related disorders of Endocardial Fibroelastosis | Symptoms of the following disorders can be similar to those of Endocardial Fibroelastosis. Comparisons may be useful for a differential diagnosis:Barth Syndrome, also known as Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria, is a rare inherited metabolic disorder. Symptoms may include low levels of certain white blood cells (agranulocytopenia), muscle weakness, and/or abnormal enlargement of the heart (hypertrophic cardiomyopathy) leading to congestive heart failure. Failure to thrive, growth delays, and/or recurring respiratory infections are common in children with Barth Syndrome. Some affected infants also have Endocardial Fibroelastosis. Barth Syndrome is inherited as an X-linked genetic trait.Carnitine Deficiency Syndrome is a rare metabolic disorder that may be inherited in some cases, or occur as a result of other metabolic disorders. Carnitine functions in the body as a carrier of fatty acids to the energy centers in muscles (mitochondria). Muscle weakness is the primary symptom of Myopathic Carnitine Deficiency Syndrome. The symptoms of Systemic Carnitine Deficiency Syndrome may include the gradual degeneration of the brain (encephalopathy), episodes of vomiting, confusion, and/or stupor that progresses to coma. Carnitine Deficiency Syndrome may also be associated with low blood sugar (hypoglycemia). Damage to the heart may result in chronic disease (cardiomyopathy). (For more information on this disorder, choose “Carnitine Deficiency” as your search term in the Rarte Disease Database.)Hypoplastic Left Heart Syndrome is a term used to describe a group of closely related rare heart defects that are present at birth (congenital). This disorder is characterized by the underdevelopment (hypoplasia) of the chambers on the left side of the heart (i.e., left atrium and ventricle). In addition, the mitral valve, which connects these chambers to each other, is usually abnormally narrow (stenosis) or closed (atresia). Symptoms of Hypoplastic Left Heart Syndrome may include difficulty breathing (dyspnea), a high-pitched noise while inhaling (rales), a grayish-blue color of the skin during the first 48 hours of life, and/or an abnormally enlarged liver (hepatomegaly) . Other symptoms may include poor feeding habits, frequent vomiting, lethargy, and/or shock. (For more information on this disorder, choose “Hypoplastic Left Heart” as your search term in the Rare Disease Database.)Atrioventricular Septal Defect is a rare heart defect that is present at birth (congenital) and is characterized by the improper development of the septa and valves (atrial and ventricular septa and atrioventricular valves). Infants with the complete form of Atrioventricular Septal Defect usually develop congestive heart failure. Excessive fluid also accumulates around the heart and lungs, and this congestion may lead to difficulty breathing (dyspnea). Other symptoms may include a bluish discoloration of the skin and mucous membranes (cyanosis), poor feeding, abnormally rapid breathing (tachypnea), excessive sweating, and/or an abnormally rapid heartbeat (tachycardia). (For more information on this disorder, choose “Atrioventricular Septal Defect” as your search term in the Rare Disease Database.)Atrial Septal Defects are congenital heart defects characterized by the presence of a small opening between the two atria of the heart. This defect leads to an increase in the work load on the right side of heart, and excessive blood flow to the lungs. The symptoms, which may become apparent during infancy, childhood, or adulthood, can vary greatly and depend on the severity of the defect. The symptoms tend to be mild at first and may include difficulty breathing (dyspnea), increased susceptibility to respiratory infections, and/or an abnormal bluish discoloration of the skin and mucous membranes (cyanosis). Some people with Atrial Septal Defects may be at increased risk for the formation of blood clots that can travel to the major arteries (embolism), possibly blocking blood circulation. (For more information on this disorder, choose “Atrial Septal Defects” as your search term in the Rare Disease Database.)Ventricular Septal Defects (Cor Triloculare Biventricularis) are a group of congenital heart defects characterized by the absence of one atrium. Infants with this defect have 2 ventricles and 1 large atrium. Symptoms of these defects may include an abnormally rapid rate of breathing (tachypnea), wheezing, a rapid heartbeat (tachycardia), and/or an abnormally enlarged liver (hepatomegaly). Ventricular Septal Defects can also cause the excessive accumulation of fluid around the heart, leading to congestive heart failure. (For more information on this disorder, choose “Ventricular Septal Defects” as your search term in the Rare Disease Database.)Cor Triatriatum is an extremely rare congenital heart defect characterized by the presence of an extra chamber above the left atrium of the heart. The pulmonary veins, returning blood from the lungs, drain into this extra “third atrium.” The symptoms of Cor Triatriatum vary greatly and depend on the size of the opening between the chambers. Symptoms may include abnormally rapid breathing (tachypnea), wheezing, coughing, and/or abnormal accumulation of fluid in the lungs (pulmonary edema). (For more information on this disorder, choose “Cor Triatriatum” as your search term in the Rare Disease Database.)Cor Triloculare Biatriatum is an extremely rare congenital heart defect characterized by the absence of one ventricle. Infants with this defect have two atria and one large ventricle. The symptoms may include breathing difficulties (dyspnea), excessive accumulation of fluid in the lungs (pulmonary edema) and around the heart, and/or a bluish discoloration of the skin and mucous membranes (cyanosis). Other symptoms may include poor feeding habits, abnormally rapid breathing (tachypnea), and/or an abnormally rapid heartbeat (tachycardia).Cardiomyopathies are a group of diseases that affect the muscular tissue of the heart and may occur for no known reason (Idiopathic Cardiomyopathy). These disorders are usually characterized by abnormal enlargement of the heart leading to impairment in cardiac function. Symptoms may include difficulty breathing, an abnormal bluish discoloration of the skin (cyanosis), abnormally rapid heart beat (tachycardia), and/or congestive heart failure. Cardiomyopathies may occur at any age.Infective Myocarditis may be caused by a virus and is characterized by difficulty breathing (dyspnea), abnormal enlargement of the heart, an unusually rapid heartbeat (tachycardia), irregular heart rhythms (arrhythmias), and/or fluid accumulation and swelling, especially in the arms, legs, and face (edema). | Related disorders of Endocardial Fibroelastosis. Symptoms of the following disorders can be similar to those of Endocardial Fibroelastosis. Comparisons may be useful for a differential diagnosis:Barth Syndrome, also known as Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria, is a rare inherited metabolic disorder. Symptoms may include low levels of certain white blood cells (agranulocytopenia), muscle weakness, and/or abnormal enlargement of the heart (hypertrophic cardiomyopathy) leading to congestive heart failure. Failure to thrive, growth delays, and/or recurring respiratory infections are common in children with Barth Syndrome. Some affected infants also have Endocardial Fibroelastosis. Barth Syndrome is inherited as an X-linked genetic trait.Carnitine Deficiency Syndrome is a rare metabolic disorder that may be inherited in some cases, or occur as a result of other metabolic disorders. Carnitine functions in the body as a carrier of fatty acids to the energy centers in muscles (mitochondria). Muscle weakness is the primary symptom of Myopathic Carnitine Deficiency Syndrome. The symptoms of Systemic Carnitine Deficiency Syndrome may include the gradual degeneration of the brain (encephalopathy), episodes of vomiting, confusion, and/or stupor that progresses to coma. Carnitine Deficiency Syndrome may also be associated with low blood sugar (hypoglycemia). Damage to the heart may result in chronic disease (cardiomyopathy). (For more information on this disorder, choose “Carnitine Deficiency” as your search term in the Rarte Disease Database.)Hypoplastic Left Heart Syndrome is a term used to describe a group of closely related rare heart defects that are present at birth (congenital). This disorder is characterized by the underdevelopment (hypoplasia) of the chambers on the left side of the heart (i.e., left atrium and ventricle). In addition, the mitral valve, which connects these chambers to each other, is usually abnormally narrow (stenosis) or closed (atresia). Symptoms of Hypoplastic Left Heart Syndrome may include difficulty breathing (dyspnea), a high-pitched noise while inhaling (rales), a grayish-blue color of the skin during the first 48 hours of life, and/or an abnormally enlarged liver (hepatomegaly) . Other symptoms may include poor feeding habits, frequent vomiting, lethargy, and/or shock. (For more information on this disorder, choose “Hypoplastic Left Heart” as your search term in the Rare Disease Database.)Atrioventricular Septal Defect is a rare heart defect that is present at birth (congenital) and is characterized by the improper development of the septa and valves (atrial and ventricular septa and atrioventricular valves). Infants with the complete form of Atrioventricular Septal Defect usually develop congestive heart failure. Excessive fluid also accumulates around the heart and lungs, and this congestion may lead to difficulty breathing (dyspnea). Other symptoms may include a bluish discoloration of the skin and mucous membranes (cyanosis), poor feeding, abnormally rapid breathing (tachypnea), excessive sweating, and/or an abnormally rapid heartbeat (tachycardia). (For more information on this disorder, choose “Atrioventricular Septal Defect” as your search term in the Rare Disease Database.)Atrial Septal Defects are congenital heart defects characterized by the presence of a small opening between the two atria of the heart. This defect leads to an increase in the work load on the right side of heart, and excessive blood flow to the lungs. The symptoms, which may become apparent during infancy, childhood, or adulthood, can vary greatly and depend on the severity of the defect. The symptoms tend to be mild at first and may include difficulty breathing (dyspnea), increased susceptibility to respiratory infections, and/or an abnormal bluish discoloration of the skin and mucous membranes (cyanosis). Some people with Atrial Septal Defects may be at increased risk for the formation of blood clots that can travel to the major arteries (embolism), possibly blocking blood circulation. (For more information on this disorder, choose “Atrial Septal Defects” as your search term in the Rare Disease Database.)Ventricular Septal Defects (Cor Triloculare Biventricularis) are a group of congenital heart defects characterized by the absence of one atrium. Infants with this defect have 2 ventricles and 1 large atrium. Symptoms of these defects may include an abnormally rapid rate of breathing (tachypnea), wheezing, a rapid heartbeat (tachycardia), and/or an abnormally enlarged liver (hepatomegaly). Ventricular Septal Defects can also cause the excessive accumulation of fluid around the heart, leading to congestive heart failure. (For more information on this disorder, choose “Ventricular Septal Defects” as your search term in the Rare Disease Database.)Cor Triatriatum is an extremely rare congenital heart defect characterized by the presence of an extra chamber above the left atrium of the heart. The pulmonary veins, returning blood from the lungs, drain into this extra “third atrium.” The symptoms of Cor Triatriatum vary greatly and depend on the size of the opening between the chambers. Symptoms may include abnormally rapid breathing (tachypnea), wheezing, coughing, and/or abnormal accumulation of fluid in the lungs (pulmonary edema). (For more information on this disorder, choose “Cor Triatriatum” as your search term in the Rare Disease Database.)Cor Triloculare Biatriatum is an extremely rare congenital heart defect characterized by the absence of one ventricle. Infants with this defect have two atria and one large ventricle. The symptoms may include breathing difficulties (dyspnea), excessive accumulation of fluid in the lungs (pulmonary edema) and around the heart, and/or a bluish discoloration of the skin and mucous membranes (cyanosis). Other symptoms may include poor feeding habits, abnormally rapid breathing (tachypnea), and/or an abnormally rapid heartbeat (tachycardia).Cardiomyopathies are a group of diseases that affect the muscular tissue of the heart and may occur for no known reason (Idiopathic Cardiomyopathy). These disorders are usually characterized by abnormal enlargement of the heart leading to impairment in cardiac function. Symptoms may include difficulty breathing, an abnormal bluish discoloration of the skin (cyanosis), abnormally rapid heart beat (tachycardia), and/or congestive heart failure. Cardiomyopathies may occur at any age.Infective Myocarditis may be caused by a virus and is characterized by difficulty breathing (dyspnea), abnormal enlargement of the heart, an unusually rapid heartbeat (tachycardia), irregular heart rhythms (arrhythmias), and/or fluid accumulation and swelling, especially in the arms, legs, and face (edema). | 407 | Endocardial Fibroelastosis |
nord_407_5 | Diagnosis of Endocardial Fibroelastosis | The diagnosis of endocardial fibroelastosis is confirmed by a thorough clinical evaluation, including a physical examination that may reveal signs of respiratory distress (i.e., moist rales) and galloping heart rhythms. Radiographic studies (x-ray) of the chest typically reveal abnormal enlargement of the heart, especially the left ventricle (ventricular hypertrophy). Damage to the heart may be demonstrated by measuring the electrical activity of the heart (i.e., electrocardiogram [EKG]). This test may show subtle changes (i.e., S-T segment and T-wave changes) that strongly suggest damage to the heart that is characteristic of EFE. Repeated electrocardiograms may be required to monitor changes in heart function. | Diagnosis of Endocardial Fibroelastosis. The diagnosis of endocardial fibroelastosis is confirmed by a thorough clinical evaluation, including a physical examination that may reveal signs of respiratory distress (i.e., moist rales) and galloping heart rhythms. Radiographic studies (x-ray) of the chest typically reveal abnormal enlargement of the heart, especially the left ventricle (ventricular hypertrophy). Damage to the heart may be demonstrated by measuring the electrical activity of the heart (i.e., electrocardiogram [EKG]). This test may show subtle changes (i.e., S-T segment and T-wave changes) that strongly suggest damage to the heart that is characteristic of EFE. Repeated electrocardiograms may be required to monitor changes in heart function. | 407 | Endocardial Fibroelastosis |
nord_407_6 | Therapies of Endocardial Fibroelastosis | TreatmentInfants who are diagnosed early in the course of the disease respond more favorably to treatment than those who are not diagnosed until substantial heart damage has already occurred. Treatment for EFE is essentially the same as for chronic heart failure. A variety of drugs may be used to help control congestive heart failure that is associated with EFE, and to reduce heart rate and improve the ability of the heart to contract. Diuretics may be used to eliminate fluids from the body. Drugs that help maintain normal heart rhythm (i.e., antiarrhythmics) may be administered to correct arrhythmias. Medications that prevent the clotting of blood (anticoagulants) may also be necessary. Prolonged bed rest may facilitate healing of myocardial lesions since the heart is working at a reduced load when a person rests.For some children with advanced illness, heart transplantation may be the treatment of last resort.Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. | Therapies of Endocardial Fibroelastosis. TreatmentInfants who are diagnosed early in the course of the disease respond more favorably to treatment than those who are not diagnosed until substantial heart damage has already occurred. Treatment for EFE is essentially the same as for chronic heart failure. A variety of drugs may be used to help control congestive heart failure that is associated with EFE, and to reduce heart rate and improve the ability of the heart to contract. Diuretics may be used to eliminate fluids from the body. Drugs that help maintain normal heart rhythm (i.e., antiarrhythmics) may be administered to correct arrhythmias. Medications that prevent the clotting of blood (anticoagulants) may also be necessary. Prolonged bed rest may facilitate healing of myocardial lesions since the heart is working at a reduced load when a person rests.For some children with advanced illness, heart transplantation may be the treatment of last resort.Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. | 407 | Endocardial Fibroelastosis |
nord_408_0 | Overview of Endomyocardial Fibrosis | Endomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities (the endocardium) of one or both of the lower chambers of the heart (the ventricles) leading to the replacement of normal cells with fibrous tissue (fibrosis). This process is progressive and leads to the narrowing (constriction) of the right or left ventricular cavities. It may involve the valves between the chambers of the heart as well as the tendon-like cords that fix the valves to the ventricles (chordae tendineae).Loeffler's disease is a disease of the heart much like endomyocardial fibrosis. Some clinicians regard it as an early stage of EMF, although this idea remains controversial. Loeffler's disease is a rare disorder of unknown origin, characterized by abnormal increases in the number of particular white blood cells (eosinophilia), and like EMF, gross fibrosis of the endocardium, and inflammation of small blood vessels (arteritis). | Overview of Endomyocardial Fibrosis. Endomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities (the endocardium) of one or both of the lower chambers of the heart (the ventricles) leading to the replacement of normal cells with fibrous tissue (fibrosis). This process is progressive and leads to the narrowing (constriction) of the right or left ventricular cavities. It may involve the valves between the chambers of the heart as well as the tendon-like cords that fix the valves to the ventricles (chordae tendineae).Loeffler's disease is a disease of the heart much like endomyocardial fibrosis. Some clinicians regard it as an early stage of EMF, although this idea remains controversial. Loeffler's disease is a rare disorder of unknown origin, characterized by abnormal increases in the number of particular white blood cells (eosinophilia), and like EMF, gross fibrosis of the endocardium, and inflammation of small blood vessels (arteritis). | 408 | Endomyocardial Fibrosis |
nord_408_1 | Symptoms of Endomyocardial Fibrosis | The main microscopic feature of endomyocardial fibrosis (as well as of Loeffler's disease) is fibrosis of the inner lining of the heart cavities (the endocardium). This means that the normal endocardium is replaced by a thick, inelastic tissue. The fibrotic lesions may be over 1 cm thick and may extend finger-like projections into the heart muscle (the myocardium).Fibrosis frequently affects the heart asymmetrically. It may specifically involve one or more of the following areas: the top (apex) of the left ventricle, the back (posterior) wall of the left ventricle including the fibrous cords that connect the valves to the ventricles (the chordae tendineae), and the top (apex) of the right ventricle, extending backwards to encase the muscle and cords (chordae tendineae) attaching the heart valve (tricuspid).If fibrosis of the left ventricle is predominant, then blood flow from the right side of the heart is reduced often with mitral valve failure causing back-flow (regurgitation) of blood. The results may include pulmonary venous hypertension and left ventricular enlargement. Abnormal heartbeat patterns (atrial fibrillation or atrial arrhythmia) are common. Difficulty in breathing (dyspnea) especially, but not exclusively, on physical exertion is the major physical sign.If fibrosis of the right ventricle is predominant, then circulation is restricted often with tricuspid valve failure, causing backflow (tricuspid regurgitation). Enlargement of the heart (cardiomyopathy) because of right atrial dilatation is often seen. Facial swelling (edema), swelling of the legs, enlargement of the spleen and liver (hepatosplenomegaly), and an accumulation of fluid in the abdominal cavity (ascites) are to be expected.Biventricular fibrosis with circulation features is a mixture of the two forms listed above. That is, the symptoms are a combination of left and right ventricular fibrosis.The extracardiac manifestations of Loeffler's disease include emboli to the brain (stroke), spotty (petechial) hemorrhages, and an enlarged liver (hepatomegaly). | Symptoms of Endomyocardial Fibrosis. The main microscopic feature of endomyocardial fibrosis (as well as of Loeffler's disease) is fibrosis of the inner lining of the heart cavities (the endocardium). This means that the normal endocardium is replaced by a thick, inelastic tissue. The fibrotic lesions may be over 1 cm thick and may extend finger-like projections into the heart muscle (the myocardium).Fibrosis frequently affects the heart asymmetrically. It may specifically involve one or more of the following areas: the top (apex) of the left ventricle, the back (posterior) wall of the left ventricle including the fibrous cords that connect the valves to the ventricles (the chordae tendineae), and the top (apex) of the right ventricle, extending backwards to encase the muscle and cords (chordae tendineae) attaching the heart valve (tricuspid).If fibrosis of the left ventricle is predominant, then blood flow from the right side of the heart is reduced often with mitral valve failure causing back-flow (regurgitation) of blood. The results may include pulmonary venous hypertension and left ventricular enlargement. Abnormal heartbeat patterns (atrial fibrillation or atrial arrhythmia) are common. Difficulty in breathing (dyspnea) especially, but not exclusively, on physical exertion is the major physical sign.If fibrosis of the right ventricle is predominant, then circulation is restricted often with tricuspid valve failure, causing backflow (tricuspid regurgitation). Enlargement of the heart (cardiomyopathy) because of right atrial dilatation is often seen. Facial swelling (edema), swelling of the legs, enlargement of the spleen and liver (hepatosplenomegaly), and an accumulation of fluid in the abdominal cavity (ascites) are to be expected.Biventricular fibrosis with circulation features is a mixture of the two forms listed above. That is, the symptoms are a combination of left and right ventricular fibrosis.The extracardiac manifestations of Loeffler's disease include emboli to the brain (stroke), spotty (petechial) hemorrhages, and an enlarged liver (hepatomegaly). | 408 | Endomyocardial Fibrosis |
nord_408_2 | Causes of Endomyocardial Fibrosis | At this time, clinicians believe that an as yet unknown immunological process is the preferred explanation for the cause of most cases of endomyocardial fibrosis and Loeffler's disease. In the past, the cause of both conditions was attributed to the presence of the filaria worm in patients or to poor nutrition. Widespread infection with such worms and poor diets are typical in the tropical regions in which these disorders are more common. Eosinophils have been observed in some cases of endomyocardial fibrosis, suggesting a form of hypersensitivity may play a role in select cases. In children, endomyocardial fibrosis has been associated with the mumps virus. | Causes of Endomyocardial Fibrosis. At this time, clinicians believe that an as yet unknown immunological process is the preferred explanation for the cause of most cases of endomyocardial fibrosis and Loeffler's disease. In the past, the cause of both conditions was attributed to the presence of the filaria worm in patients or to poor nutrition. Widespread infection with such worms and poor diets are typical in the tropical regions in which these disorders are more common. Eosinophils have been observed in some cases of endomyocardial fibrosis, suggesting a form of hypersensitivity may play a role in select cases. In children, endomyocardial fibrosis has been associated with the mumps virus. | 408 | Endomyocardial Fibrosis |
nord_408_3 | Affects of Endomyocardial Fibrosis | Endomyocardial fibrosis is principally an endemic disease of the equatorial tropics. It is exceedingly rare in Europe and North America. It affects all races, mostly children and young adults. The disease has been described in a few patients over 60 years of age and, rarely, in patients younger than 5 years of age. | Affects of Endomyocardial Fibrosis. Endomyocardial fibrosis is principally an endemic disease of the equatorial tropics. It is exceedingly rare in Europe and North America. It affects all races, mostly children and young adults. The disease has been described in a few patients over 60 years of age and, rarely, in patients younger than 5 years of age. | 408 | Endomyocardial Fibrosis |
nord_408_4 | Related disorders of Endomyocardial Fibrosis | Amyloidosis is the term applied to a group of metabolic disorders characterized by the abnormal accumulation of a fibrous protein (amyloid) in various tissues of the body, including the heart. This can lead to impaired function of the affected organs. When amyloidosis affects the gastrointestinal system, symptoms may include ulceration, bleeding, weak stomach activity, protein loss, diarrhea, and/or vomiting. Amyloid accumulation may also cause a lack of movement in the esophagus and intestines. Amyloid accumulation in the heart may lead to heart failure symptoms including shortness of breath, swelling of the legs and ascites. (For more information on this disorder, choose “Amyloidosis” as your search term in the Rare Disease Database.)Hemochromatosis is a hereditary disorder of iron metabolism characterized by excess deposits of iron in the tissues, especially in the liver, pancreas, and heart, and by bronze-colored pigmentation of the skin. Cirrhosis of the liver, diabetes mellitus, heart failure and associated bone and joint changes may also occur.Sarcoidosis is a rare disorder that affects many systems of the body. It is characterized by small round lesions (tubercles) of granular material. Symptoms vary depending on the severity of the disease. They may be absent, slight, or severe. Organ function may be impaired by active granulomatous disease or by fibrous changes that are associated with acute inflammation. The initial symptoms may include fever, weight loss, and/or joint pain. Persistent fever is especially common with liver (hepatic) involvement. Enlargement of lymph glands is also common and usually without symptoms. The lungs and the lymph glands between the lungs are frequently affected, and symptoms may include coughing and difficulty breathing. The heart may also be affected, resulting in abnormal heartbeat patterns (conduction block, atrial arrhythmia or ventricular arrhythmia) and/or heart failure. (For more information on this disorder, choose “Sarcoidosis” as your search term in the Rare Disease Database.) | Related disorders of Endomyocardial Fibrosis. Amyloidosis is the term applied to a group of metabolic disorders characterized by the abnormal accumulation of a fibrous protein (amyloid) in various tissues of the body, including the heart. This can lead to impaired function of the affected organs. When amyloidosis affects the gastrointestinal system, symptoms may include ulceration, bleeding, weak stomach activity, protein loss, diarrhea, and/or vomiting. Amyloid accumulation may also cause a lack of movement in the esophagus and intestines. Amyloid accumulation in the heart may lead to heart failure symptoms including shortness of breath, swelling of the legs and ascites. (For more information on this disorder, choose “Amyloidosis” as your search term in the Rare Disease Database.)Hemochromatosis is a hereditary disorder of iron metabolism characterized by excess deposits of iron in the tissues, especially in the liver, pancreas, and heart, and by bronze-colored pigmentation of the skin. Cirrhosis of the liver, diabetes mellitus, heart failure and associated bone and joint changes may also occur.Sarcoidosis is a rare disorder that affects many systems of the body. It is characterized by small round lesions (tubercles) of granular material. Symptoms vary depending on the severity of the disease. They may be absent, slight, or severe. Organ function may be impaired by active granulomatous disease or by fibrous changes that are associated with acute inflammation. The initial symptoms may include fever, weight loss, and/or joint pain. Persistent fever is especially common with liver (hepatic) involvement. Enlargement of lymph glands is also common and usually without symptoms. The lungs and the lymph glands between the lungs are frequently affected, and symptoms may include coughing and difficulty breathing. The heart may also be affected, resulting in abnormal heartbeat patterns (conduction block, atrial arrhythmia or ventricular arrhythmia) and/or heart failure. (For more information on this disorder, choose “Sarcoidosis” as your search term in the Rare Disease Database.) | 408 | Endomyocardial Fibrosis |
nord_408_5 | Diagnosis of Endomyocardial Fibrosis | Echocardiography is the primary tool used to diagnose suspected cases of endomyocardial fibrosis or Loeffler's disease. A heart muscle biopsy is sometimes obtained to confirm the diagnosis. | Diagnosis of Endomyocardial Fibrosis. Echocardiography is the primary tool used to diagnose suspected cases of endomyocardial fibrosis or Loeffler's disease. A heart muscle biopsy is sometimes obtained to confirm the diagnosis. | 408 | Endomyocardial Fibrosis |
nord_408_6 | Therapies of Endomyocardial Fibrosis | TreatmentResponses to medical treatment are generally poor and unproven. For patients with severe symptoms, surgical treatment may be pursued when other treatments have not been successful. These procedures, however, are not without risk. Mortality as a consequence of surgery may be as high as 20%. Successful surgery reduces symptoms and increases survival times and rates.Surgery is usually designed (1) to take out the fibrous endomyocardium so that the ventricles can be filled with blood once more; (2) to repair or replace the mitral or tricuspid valve (or both), if one or another is involved; and (3) to leave a portion of fibrous endocardium in place to prevent postoperative heart block. | Therapies of Endomyocardial Fibrosis. TreatmentResponses to medical treatment are generally poor and unproven. For patients with severe symptoms, surgical treatment may be pursued when other treatments have not been successful. These procedures, however, are not without risk. Mortality as a consequence of surgery may be as high as 20%. Successful surgery reduces symptoms and increases survival times and rates.Surgery is usually designed (1) to take out the fibrous endomyocardium so that the ventricles can be filled with blood once more; (2) to repair or replace the mitral or tricuspid valve (or both), if one or another is involved; and (3) to leave a portion of fibrous endocardium in place to prevent postoperative heart block. | 408 | Endomyocardial Fibrosis |
nord_409_0 | Overview of Enterobiasis | Enterobiasis or pinworm infection is a common, contagious, parasitic infestation found mainly in children. The disorder is spread by swallowing or inhaling the tiny eggs of the pinworm. Enterobiasis rarely causes any serious physical problems except for the main symptom, which is severe rectal itching. | Overview of Enterobiasis. Enterobiasis or pinworm infection is a common, contagious, parasitic infestation found mainly in children. The disorder is spread by swallowing or inhaling the tiny eggs of the pinworm. Enterobiasis rarely causes any serious physical problems except for the main symptom, which is severe rectal itching. | 409 | Enterobiasis |
nord_409_1 | Symptoms of Enterobiasis | The major symptom of enterobiasis is itching in the anal area. There may also be restlessness and difficulty sleeping. Secondary bacterial infections may develop in the areas that are constantly scratched and, very infrequently, the vagina may become involved in young girls. Very rarely, enterobiasis may lead to appendicitis or inflammation of the fallopian tubes in females.Many children with enterobiasis show no symptoms (asymptomatic). In rare cases, nausea, loss of appetite, vomiting, involuntary discharge of urine at night (enuresis) or stomach pain may occur. The disorder is usually first identified when live, thin, white pinworms, (females are about 10 mm in length and males are 4-5 mm in length) are noticed in the feces. | Symptoms of Enterobiasis. The major symptom of enterobiasis is itching in the anal area. There may also be restlessness and difficulty sleeping. Secondary bacterial infections may develop in the areas that are constantly scratched and, very infrequently, the vagina may become involved in young girls. Very rarely, enterobiasis may lead to appendicitis or inflammation of the fallopian tubes in females.Many children with enterobiasis show no symptoms (asymptomatic). In rare cases, nausea, loss of appetite, vomiting, involuntary discharge of urine at night (enuresis) or stomach pain may occur. The disorder is usually first identified when live, thin, white pinworms, (females are about 10 mm in length and males are 4-5 mm in length) are noticed in the feces. | 409 | Enterobiasis |
nord_409_2 | Causes of Enterobiasis | Enterobiasis is contracted by ingesting the eggs of pinworms, which may be carried on fingernails, clothing, toys or bedding. The eggs may also be inhaled in dust. The infection may be transmitted to others by hand-to-mouth contact with contaminated food or objects.The female worm, residing in the rectum, usually crawls out through the anus at night and deposits her eggs in the surrounding (perianal) area. The sticky, gelatinous substance in which the eggs are deposited and the movements of the female worm usually cause intense rectal itching. The adult female worm dies after laying the eggs. However, the eggs may survive for as long as three weeks. As the child scratches the area, the tiny eggs become imbedded under the fingernails. These eggs may be swallowed, continuing the parasites' lifecycle. The parasites reach maturity in the large intestine within two to six weeks. | Causes of Enterobiasis. Enterobiasis is contracted by ingesting the eggs of pinworms, which may be carried on fingernails, clothing, toys or bedding. The eggs may also be inhaled in dust. The infection may be transmitted to others by hand-to-mouth contact with contaminated food or objects.The female worm, residing in the rectum, usually crawls out through the anus at night and deposits her eggs in the surrounding (perianal) area. The sticky, gelatinous substance in which the eggs are deposited and the movements of the female worm usually cause intense rectal itching. The adult female worm dies after laying the eggs. However, the eggs may survive for as long as three weeks. As the child scratches the area, the tiny eggs become imbedded under the fingernails. These eggs may be swallowed, continuing the parasites' lifecycle. The parasites reach maturity in the large intestine within two to six weeks. | 409 | Enterobiasis |
nord_409_3 | Affects of Enterobiasis | Enterobiasis is a common disorder affecting both sexes in equal numbers. It most frequently occurs in children during nursery school or kindergarten years. An entire classroom of children may be affected very quickly as the infection is spread from one child to the next.In the United States, it is thought that about 10% of the general population is infested but that the number is declining. | Affects of Enterobiasis. Enterobiasis is a common disorder affecting both sexes in equal numbers. It most frequently occurs in children during nursery school or kindergarten years. An entire classroom of children may be affected very quickly as the infection is spread from one child to the next.In the United States, it is thought that about 10% of the general population is infested but that the number is declining. | 409 | Enterobiasis |
nord_409_4 | Related disorders of Enterobiasis | Symptoms of the following disorders can be similar to those of Enterobiasis. Comparisons may be useful for a differential diagnosis:Roundworms (Ascariasis) are found in tropical areas. Young children are most commonly affected. Roundworm eggs are passed to the soil through the feces and may remain in the soil for months or years. They are transmitted to humans by hand-to-mouth contact. Symptoms may include fever, cough, wheezing, stomach cramps, and intestinal obstruction. Treatment is usually with such drugs as pyrantel pamoate or mebendazole.Hookworms are contracted primarily by walking barefooted through contaminated soil. They are most commonly found in temperate and warm, moist climates. The worms penetrate the skin and travel to the small intestine where they attach themselves to the mucosa and suck blood. The most common symptom is abdominal pain. Anemia may also occur. | Related disorders of Enterobiasis. Symptoms of the following disorders can be similar to those of Enterobiasis. Comparisons may be useful for a differential diagnosis:Roundworms (Ascariasis) are found in tropical areas. Young children are most commonly affected. Roundworm eggs are passed to the soil through the feces and may remain in the soil for months or years. They are transmitted to humans by hand-to-mouth contact. Symptoms may include fever, cough, wheezing, stomach cramps, and intestinal obstruction. Treatment is usually with such drugs as pyrantel pamoate or mebendazole.Hookworms are contracted primarily by walking barefooted through contaminated soil. They are most commonly found in temperate and warm, moist climates. The worms penetrate the skin and travel to the small intestine where they attach themselves to the mucosa and suck blood. The most common symptom is abdominal pain. Anemia may also occur. | 409 | Enterobiasis |
nord_409_5 | Diagnosis of Enterobiasis | Diagnosis of Enterobiasis. | 409 | Enterobiasis |
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nord_409_6 | Therapies of Enterobiasis | Enterobiasis usually is self-limiting if good hygiene is followed. However, most individuals prefer some type of treatment, and the drug pyrantel pamoate is usually prescribed. One dose of pyrantel pamoate, repeated in two weeks, usually stops the infestation. Reinfestation is likely since eggs deposited as long as one week after therapy may survive, and eggs deposited before therapy may survive for up to three weeks. The entire family is usually treated. Petroleum jelly may be applied topically to relieve itching.Treatment to prevent reinfection includes careful attention to personal hygiene, especially the washing of hands and fingernails, clothing and bed linens. | Therapies of Enterobiasis. Enterobiasis usually is self-limiting if good hygiene is followed. However, most individuals prefer some type of treatment, and the drug pyrantel pamoate is usually prescribed. One dose of pyrantel pamoate, repeated in two weeks, usually stops the infestation. Reinfestation is likely since eggs deposited as long as one week after therapy may survive, and eggs deposited before therapy may survive for up to three weeks. The entire family is usually treated. Petroleum jelly may be applied topically to relieve itching.Treatment to prevent reinfection includes careful attention to personal hygiene, especially the washing of hands and fingernails, clothing and bed linens. | 409 | Enterobiasis |
nord_410_0 | Overview of Eosinophilia-Myalgia Syndrome | SummaryEosinophilia-myalgia syndrome is a rare disorder that affects multiple organ systems of the body including the muscles, skin, and lungs. The onset of the disorder is often abrupt and the specific symptoms can vary greatly from one person to another. Common symptoms include muscle pain (myalgia), muscle weakness, cramping, skin rashes, difficulty breathing (dyspnea) and fatigue. Affected individuals have elevated levels of certain white blood cells known as eosinophils in the various tissues of the body, a condition known as eosinophilia. Eosinophilia-myalgia syndrome can potentially cause severe, disabling complications and even death.IntroductionDuring the autumn of 1989, an epidemic of a new disease occurred in the United States. The illness was characterized by elevations of blood eosinophils (a type of white blood cell) and myalgia (severe muscle pain) and was termed the eosinophilia-myalgia syndrome (EMS). The disease was first recognized in October 1989 when physicians in New Mexico identified three women with similar clinical findings: all three had consumed manufactured L-tryptophan supplements prior to the onset of their illness. (L-tryptophan is an essential amino acid found naturally in various foods, and L-tryptophan can also be manufactured.) These patients' findings were publicized by the local news media and, soon thereafter, additional cases of the same illness were identified throughout the USA and in several other countries.Epidemiological studies were initiated within days of discovery of the epidemic in early November 1989 by state health departments in New Mexico and Minnesota, and these studies demonstrated a strong association between the consumption of manufactured L-tryptophan and the onset of EMS. A national surveillance program was initiated by the United States Centers for Disease Control (CDC) to investigate the new disease. On November 11, 1989, the United States Food and Drug Administration (FDA) issued a nationwide warning advising consumers to stop consumption of manufactured L-tryptophan food products and requested a nationwide recall of all L-tryptophan supplements sold over-the-counter.After the removal of L-tryptophan supplements from the consumer markets, the number of new cases of EMS diminished rapidly. Nevertheless, more than 1,500 people were affected by the illness and 37 deaths were attributed to the disease. In many cases the disease struck patients in the prime of life and caused severe, debilitating neurological damage. It is likely that the toll from the disease would have been considerably greater if not for the alertness of physicians who linked the new disease to manufactured L-tryptophan, and for the epidemiological investigations by the state Departments of Health and the CDC, plus the prompt recall initiated by the FDA of products containing L-tryptophan. However, while the epidemiological and chemical investigations indicate that the epidemic of EMS was caused by contaminated L-tryptophan supplements, the precise contaminant causing the disease is still unknown.In 1994 Congress passed the Dietary Health Supplement Education Act (DHSEA), which President Clinton signed into law. This law greatly weakened FDA’s ability to regulate dietary supplements. As a result, manufactured L-tryptophan is legally sold again.There had been isolated cases of EMS diagnosed before the epidemic of 1989 and there have been after, as well. The isolated cases of EMS diagnosed before the epidemic of 1989 were attributed to L-tryptophan dietary supplements. The isolated cases of EMS that are currently being diagnosed are attributed to L-tryptophan or 5-HTP dietary supplements. During the time that L-tryptophan was taken off the market, the closely related dietary supplement 5-hydroxytryptophan (5-HTP) was used as a substitute, and it continues to be so used. The amino acid 5-HTP is found on the metabolic pathway that converts the essential amino acid L-tryptophan to the neurotransmitter serotonin. Because serotonin helps to regulate sleep and mood (among other things), it is thought that ingesting L-tryptophan or 5-HTP, thus purportedly improving sleep and mood, will increase this neurotransmitter. The National Eosinophilia Myalgia Syndrome Network (NEMSN), for the past several years, has also been receiving reports from people who have developed EMS-like symptoms soon after ingesting manufactured L-tryptophan, 5-HTP, or other products containing L-tryptophan or 5-HTP, such as certain body building products, weight loss supplements, and sleep aids. | Overview of Eosinophilia-Myalgia Syndrome. SummaryEosinophilia-myalgia syndrome is a rare disorder that affects multiple organ systems of the body including the muscles, skin, and lungs. The onset of the disorder is often abrupt and the specific symptoms can vary greatly from one person to another. Common symptoms include muscle pain (myalgia), muscle weakness, cramping, skin rashes, difficulty breathing (dyspnea) and fatigue. Affected individuals have elevated levels of certain white blood cells known as eosinophils in the various tissues of the body, a condition known as eosinophilia. Eosinophilia-myalgia syndrome can potentially cause severe, disabling complications and even death.IntroductionDuring the autumn of 1989, an epidemic of a new disease occurred in the United States. The illness was characterized by elevations of blood eosinophils (a type of white blood cell) and myalgia (severe muscle pain) and was termed the eosinophilia-myalgia syndrome (EMS). The disease was first recognized in October 1989 when physicians in New Mexico identified three women with similar clinical findings: all three had consumed manufactured L-tryptophan supplements prior to the onset of their illness. (L-tryptophan is an essential amino acid found naturally in various foods, and L-tryptophan can also be manufactured.) These patients' findings were publicized by the local news media and, soon thereafter, additional cases of the same illness were identified throughout the USA and in several other countries.Epidemiological studies were initiated within days of discovery of the epidemic in early November 1989 by state health departments in New Mexico and Minnesota, and these studies demonstrated a strong association between the consumption of manufactured L-tryptophan and the onset of EMS. A national surveillance program was initiated by the United States Centers for Disease Control (CDC) to investigate the new disease. On November 11, 1989, the United States Food and Drug Administration (FDA) issued a nationwide warning advising consumers to stop consumption of manufactured L-tryptophan food products and requested a nationwide recall of all L-tryptophan supplements sold over-the-counter.After the removal of L-tryptophan supplements from the consumer markets, the number of new cases of EMS diminished rapidly. Nevertheless, more than 1,500 people were affected by the illness and 37 deaths were attributed to the disease. In many cases the disease struck patients in the prime of life and caused severe, debilitating neurological damage. It is likely that the toll from the disease would have been considerably greater if not for the alertness of physicians who linked the new disease to manufactured L-tryptophan, and for the epidemiological investigations by the state Departments of Health and the CDC, plus the prompt recall initiated by the FDA of products containing L-tryptophan. However, while the epidemiological and chemical investigations indicate that the epidemic of EMS was caused by contaminated L-tryptophan supplements, the precise contaminant causing the disease is still unknown.In 1994 Congress passed the Dietary Health Supplement Education Act (DHSEA), which President Clinton signed into law. This law greatly weakened FDA’s ability to regulate dietary supplements. As a result, manufactured L-tryptophan is legally sold again.There had been isolated cases of EMS diagnosed before the epidemic of 1989 and there have been after, as well. The isolated cases of EMS diagnosed before the epidemic of 1989 were attributed to L-tryptophan dietary supplements. The isolated cases of EMS that are currently being diagnosed are attributed to L-tryptophan or 5-HTP dietary supplements. During the time that L-tryptophan was taken off the market, the closely related dietary supplement 5-hydroxytryptophan (5-HTP) was used as a substitute, and it continues to be so used. The amino acid 5-HTP is found on the metabolic pathway that converts the essential amino acid L-tryptophan to the neurotransmitter serotonin. Because serotonin helps to regulate sleep and mood (among other things), it is thought that ingesting L-tryptophan or 5-HTP, thus purportedly improving sleep and mood, will increase this neurotransmitter. The National Eosinophilia Myalgia Syndrome Network (NEMSN), for the past several years, has also been receiving reports from people who have developed EMS-like symptoms soon after ingesting manufactured L-tryptophan, 5-HTP, or other products containing L-tryptophan or 5-HTP, such as certain body building products, weight loss supplements, and sleep aids. | 410 | Eosinophilia-Myalgia Syndrome |
nord_410_1 | Symptoms of Eosinophilia-Myalgia Syndrome | The symptoms and severity of eosinophilia-myalgia syndrome can vary greatly from one person to another. In most cases, the onset of the disorder is rapid.The initial symptoms associated with eosinophilia-myalgia syndrome include breathing difficulties such as shortness of breath (dyspnea) and muscle aches, cramping and spasms. Muscle pain (myalgia) also occurs and may become progressively worse. Eventually, muscle pain may become incapacitating making it difficult to walk or perform daily activities. The muscles of the legs, back and shoulders are most often affected. Muscle spasms may be triggered by movement or exercise. Muscle weakness usually does not occur until later in the course of the disorder.Additional symptoms that often occur during this earlier phase of eosinophilia-myalgia syndrome include cough, fever, fatigue, joint pain (arthralgia), swelling due to the abnormal accumulation of fluid (edema), and a sensation of numbness or tingling, most often in the hands, feet, arms or legs. Affected individuals may also develop a rash that can be extremely itchy (pruritus). This initial (acute) phase of the disorder usually lasts approximately 3-6 months.After this initial phase, affected individuals experience chronic symptoms that can affect several different organ systems of the body. The skin is the organ most often affected and may slowly swell, thicken and harden (eosinophilic fasciitis). The arms and legs are most often affected. Some individuals develop small areas of hair loss (alopecia).The central nervous system becomes involved in some cases and can cause decreased feeling (sensation) in the hands, increased sensation (hyperesthesia) in the back and arms or legs, progressive muscle weakness, bladder dysfunction, changes in mood or behavior and cognitive deficits such as memory loss, difficulty concentrating and difficulty communicating. However, the relationship between cognitive deficits or behavioral changes and eosinophilia-myalgia syndrome is controversial. Some researchers believe these problems arise from severe pain, depression and disturbances in sleep patterns associated with eosinophilia-myalgia syndrome and not from the direct, underlying effects of the disorder.Additional symptoms can occur during the chronic phase of eosinophilia-myalgia syndrome although they occur less often than the abovementioned symptoms. Such symptoms include heart (cardiac) abnormalities including inflammation of the heart muscle (myocarditis), irregular heartbeats (arrhythmias) and palpitations. Some individuals may have gastrointestinal symptoms including nausea, vomiting, diarrhea and abdominal pain.Muscle pain, the characteristic finding of the acute phase, also occurs during the chronic phase of the disorder, although it often comes and goes (remission and relapse). Fatigue, which can be profound, also occurs during the chronic phase. Muscle cramps and shortness of breath are also present. | Symptoms of Eosinophilia-Myalgia Syndrome. The symptoms and severity of eosinophilia-myalgia syndrome can vary greatly from one person to another. In most cases, the onset of the disorder is rapid.The initial symptoms associated with eosinophilia-myalgia syndrome include breathing difficulties such as shortness of breath (dyspnea) and muscle aches, cramping and spasms. Muscle pain (myalgia) also occurs and may become progressively worse. Eventually, muscle pain may become incapacitating making it difficult to walk or perform daily activities. The muscles of the legs, back and shoulders are most often affected. Muscle spasms may be triggered by movement or exercise. Muscle weakness usually does not occur until later in the course of the disorder.Additional symptoms that often occur during this earlier phase of eosinophilia-myalgia syndrome include cough, fever, fatigue, joint pain (arthralgia), swelling due to the abnormal accumulation of fluid (edema), and a sensation of numbness or tingling, most often in the hands, feet, arms or legs. Affected individuals may also develop a rash that can be extremely itchy (pruritus). This initial (acute) phase of the disorder usually lasts approximately 3-6 months.After this initial phase, affected individuals experience chronic symptoms that can affect several different organ systems of the body. The skin is the organ most often affected and may slowly swell, thicken and harden (eosinophilic fasciitis). The arms and legs are most often affected. Some individuals develop small areas of hair loss (alopecia).The central nervous system becomes involved in some cases and can cause decreased feeling (sensation) in the hands, increased sensation (hyperesthesia) in the back and arms or legs, progressive muscle weakness, bladder dysfunction, changes in mood or behavior and cognitive deficits such as memory loss, difficulty concentrating and difficulty communicating. However, the relationship between cognitive deficits or behavioral changes and eosinophilia-myalgia syndrome is controversial. Some researchers believe these problems arise from severe pain, depression and disturbances in sleep patterns associated with eosinophilia-myalgia syndrome and not from the direct, underlying effects of the disorder.Additional symptoms can occur during the chronic phase of eosinophilia-myalgia syndrome although they occur less often than the abovementioned symptoms. Such symptoms include heart (cardiac) abnormalities including inflammation of the heart muscle (myocarditis), irregular heartbeats (arrhythmias) and palpitations. Some individuals may have gastrointestinal symptoms including nausea, vomiting, diarrhea and abdominal pain.Muscle pain, the characteristic finding of the acute phase, also occurs during the chronic phase of the disorder, although it often comes and goes (remission and relapse). Fatigue, which can be profound, also occurs during the chronic phase. Muscle cramps and shortness of breath are also present. | 410 | Eosinophilia-Myalgia Syndrome |
nord_410_2 | Causes of Eosinophilia-Myalgia Syndrome | Although almost all cases of eosinophilia-myalgia syndrome in the 1989 epidemic were traced back to ingestion of contaminated L-tryptophan manufactured by a single company, namely Showa Denko K.K. (Tokyo, Japan), a large petrochemical company, the precise contaminant causing the disease is still unknown.There had been isolated cases of EMS diagnosed before the epidemic of 1989 and there have been after, as well. The isolated cases of EMS diagnosed before the epidemic of 1989 were attributed to L-tryptophan dietary supplements. The isolated cases of EMS that are currently being diagnosed are attributed to L-tryptophan or 5-HTP dietary supplements. During the time that L-tryptophan was taken off the market, the closely related dietary supplement 5-hydroxytryptophan (5-HTP) was used as a substitute, and it continues to be so used. The amino acid 5-HTP is found on the metabolic pathway that converts the essential amino acid L-tryptophan to the neurotransmitter serotonin. Because serotonin helps to regulate sleep and mood (among other things), it is thought that ingesting L-tryptophan or 5-HTP, thus purportedly improving sleep and mood, will increase this neurotransmitter. The National Eosinophilia Myalgia Syndrome Network (NEMSN), for the past several years, has also been receiving reports from people who have developed EMS-like symptoms soon after ingesting manufactured L-tryptophan, 5-HTP, or other products containing L-tryptophan or 5-HTP, such as certain body building products, weight loss supplements, and sleep aids. | Causes of Eosinophilia-Myalgia Syndrome. Although almost all cases of eosinophilia-myalgia syndrome in the 1989 epidemic were traced back to ingestion of contaminated L-tryptophan manufactured by a single company, namely Showa Denko K.K. (Tokyo, Japan), a large petrochemical company, the precise contaminant causing the disease is still unknown.There had been isolated cases of EMS diagnosed before the epidemic of 1989 and there have been after, as well. The isolated cases of EMS diagnosed before the epidemic of 1989 were attributed to L-tryptophan dietary supplements. The isolated cases of EMS that are currently being diagnosed are attributed to L-tryptophan or 5-HTP dietary supplements. During the time that L-tryptophan was taken off the market, the closely related dietary supplement 5-hydroxytryptophan (5-HTP) was used as a substitute, and it continues to be so used. The amino acid 5-HTP is found on the metabolic pathway that converts the essential amino acid L-tryptophan to the neurotransmitter serotonin. Because serotonin helps to regulate sleep and mood (among other things), it is thought that ingesting L-tryptophan or 5-HTP, thus purportedly improving sleep and mood, will increase this neurotransmitter. The National Eosinophilia Myalgia Syndrome Network (NEMSN), for the past several years, has also been receiving reports from people who have developed EMS-like symptoms soon after ingesting manufactured L-tryptophan, 5-HTP, or other products containing L-tryptophan or 5-HTP, such as certain body building products, weight loss supplements, and sleep aids. | 410 | Eosinophilia-Myalgia Syndrome |
nord_410_3 | Affects of Eosinophilia-Myalgia Syndrome | Eosinophilia-myalgia syndrome was identified as an epidemic in 1989 after three people in New Mexico were identified with the disorder. The exact incidence of eosinophilia-myalgia syndrome is unknown. One estimate indicates that anywhere from 5,000-10,000 people developed the disorder during the epidemic. Most reported individuals are females and from the United States. However, eosinophilia-myalgia syndrome has been reported in other countries as well including Germany, Canada and the United Kingdom. | Affects of Eosinophilia-Myalgia Syndrome. Eosinophilia-myalgia syndrome was identified as an epidemic in 1989 after three people in New Mexico were identified with the disorder. The exact incidence of eosinophilia-myalgia syndrome is unknown. One estimate indicates that anywhere from 5,000-10,000 people developed the disorder during the epidemic. Most reported individuals are females and from the United States. However, eosinophilia-myalgia syndrome has been reported in other countries as well including Germany, Canada and the United Kingdom. | 410 | Eosinophilia-Myalgia Syndrome |
nord_410_4 | Related disorders of Eosinophilia-Myalgia Syndrome | Symptoms of the following disorders can be similar to those of eosinophilia-myalgia syndrome. Comparisons may be useful for a differential diagnosis.Eosinophilic fasciitis is a rare disorder characterized by inflammation of the tough band of fibrous tissue beneath the skin (fascia). The arms and legs are most often affected. Inflammation is caused by the abnormal accumulation of certain white blood cells including eosinophils in the fascia. Eosinophilic fasciitis eventually causes the skin to swell and slowly thicken and harden (induration). The disorder most commonly affects middle-aged adults. The exact cause of eosinophilic fasciitis is unknown. Some researchers believe that eosinophilic fasciitis is a variant of scleroderma (systemic sclerosis), an autoimmune connective tissue disorder characterized by hardening of the skin. Eosinophilic fasciitis commonly afflicted EMS patients. (For more information on this disorder, choose “eosinophilic fasciitis” as your search term in the Rare Disease Database.)Toxic oil syndrome is a rare disorder that occurred in Spain in the early 1980s. Affected individuals developed a variety of symptoms including shortness of breath (dyspnea), cough, chest pain, headaches, and fever. Additional symptoms occurred in some cases including abdominal pain, difficulty swallowing (dysphagia), nausea, a skin rash, itching (pruritus), a rapid heartbeat (tachycardia), an abnormally enlarged liver (hepatomegaly) and an abnormally enlarged spleen (splenomegaly). Eventually, affected individuals develop severe muscle pain and cramps. Affected individuals also had abnormally high levels of eosinophils (a type of white blood cell) in the body (eosinophilia). Toxic oil syndrome was caused by rapeseed oil, which was intended for industrial use, but fraudulently sold as olive oil. Researchers believe that toxins found in the rapeseed oil (as part of the refinement process), such as fatty acid compounds (anilides), caused the symptoms of the disorder. However, as with EMS, the cause of the toxic oil syndrome remains a mystery.Eosinophilic disorder is a general term for any disorder characterized by infiltration of the skin and tissue by a certain type of white blood cell called eosinophils, including disease resulting from arthropod bites, infections, and drug reactions. Churg-Strauss syndrome, hypereosinophilic syndrome and eosinophilic cellulitis are examples of disorders characterized by elevated levels of eosinophils. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.) | Related disorders of Eosinophilia-Myalgia Syndrome. Symptoms of the following disorders can be similar to those of eosinophilia-myalgia syndrome. Comparisons may be useful for a differential diagnosis.Eosinophilic fasciitis is a rare disorder characterized by inflammation of the tough band of fibrous tissue beneath the skin (fascia). The arms and legs are most often affected. Inflammation is caused by the abnormal accumulation of certain white blood cells including eosinophils in the fascia. Eosinophilic fasciitis eventually causes the skin to swell and slowly thicken and harden (induration). The disorder most commonly affects middle-aged adults. The exact cause of eosinophilic fasciitis is unknown. Some researchers believe that eosinophilic fasciitis is a variant of scleroderma (systemic sclerosis), an autoimmune connective tissue disorder characterized by hardening of the skin. Eosinophilic fasciitis commonly afflicted EMS patients. (For more information on this disorder, choose “eosinophilic fasciitis” as your search term in the Rare Disease Database.)Toxic oil syndrome is a rare disorder that occurred in Spain in the early 1980s. Affected individuals developed a variety of symptoms including shortness of breath (dyspnea), cough, chest pain, headaches, and fever. Additional symptoms occurred in some cases including abdominal pain, difficulty swallowing (dysphagia), nausea, a skin rash, itching (pruritus), a rapid heartbeat (tachycardia), an abnormally enlarged liver (hepatomegaly) and an abnormally enlarged spleen (splenomegaly). Eventually, affected individuals develop severe muscle pain and cramps. Affected individuals also had abnormally high levels of eosinophils (a type of white blood cell) in the body (eosinophilia). Toxic oil syndrome was caused by rapeseed oil, which was intended for industrial use, but fraudulently sold as olive oil. Researchers believe that toxins found in the rapeseed oil (as part of the refinement process), such as fatty acid compounds (anilides), caused the symptoms of the disorder. However, as with EMS, the cause of the toxic oil syndrome remains a mystery.Eosinophilic disorder is a general term for any disorder characterized by infiltration of the skin and tissue by a certain type of white blood cell called eosinophils, including disease resulting from arthropod bites, infections, and drug reactions. Churg-Strauss syndrome, hypereosinophilic syndrome and eosinophilic cellulitis are examples of disorders characterized by elevated levels of eosinophils. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.) | 410 | Eosinophilia-Myalgia Syndrome |
nord_410_5 | Diagnosis of Eosinophilia-Myalgia Syndrome | EMS is a syndrome with multiple clinical presentations and variable severity. The first clinical reports showed that most patients developed profound eosinophilia and severe myalgias. Further, other symptoms included joint pains, weakness or fatigue, difficulty breathing or cough, rash, headache, peripheral edema (swelling), fever and abnormal tingling sensations. Most patients also showed an elevation of an enzyme called serum aldolase, which is an indicator of muscle damage. About one-half of the patients had abnormal liver function tests.Clinical and histopathological findings of EMS overlap those of eosinophilic fasciitis a fibrotic syndrome characterized by tender swelling and hardening of subcutaneous tissues especially in arms and legs.There are no medical tests to definitively diagnose EMS. Many physicians lack knowledge of EMS, and therefore, patients may be diagnosed with diseases that have overlapping symptoms, such as fibromyalgia, chronic fatigue syndrome, lupus, arthritis, fasciitis, and other autoimmune or neuromuscular disorders with similar symptoms. Criteria for the diagnosis have been described that are useful. | Diagnosis of Eosinophilia-Myalgia Syndrome. EMS is a syndrome with multiple clinical presentations and variable severity. The first clinical reports showed that most patients developed profound eosinophilia and severe myalgias. Further, other symptoms included joint pains, weakness or fatigue, difficulty breathing or cough, rash, headache, peripheral edema (swelling), fever and abnormal tingling sensations. Most patients also showed an elevation of an enzyme called serum aldolase, which is an indicator of muscle damage. About one-half of the patients had abnormal liver function tests.Clinical and histopathological findings of EMS overlap those of eosinophilic fasciitis a fibrotic syndrome characterized by tender swelling and hardening of subcutaneous tissues especially in arms and legs.There are no medical tests to definitively diagnose EMS. Many physicians lack knowledge of EMS, and therefore, patients may be diagnosed with diseases that have overlapping symptoms, such as fibromyalgia, chronic fatigue syndrome, lupus, arthritis, fasciitis, and other autoimmune or neuromuscular disorders with similar symptoms. Criteria for the diagnosis have been described that are useful. | 410 | Eosinophilia-Myalgia Syndrome |
nord_410_6 | Therapies of Eosinophilia-Myalgia Syndrome | TreatmentThere are no peer-reviewed guidelines for the standard of care of EMS patients. Because of the variety and diversity of how EMS manifests, patients are treated based on their individual symptoms and may be prescribed muscle relaxants, analgesics, and diuretics.High doses of corticosteroids may help reduce inflammation, However, most researchers have concluded that this course of treatment does not reduce the severity or duration of EMS symptoms. In the acute phase, patients who have intense muscle pain and cramps may need to limit or avoid strenuous physical activity. Some patients have required hospitalization. In the chronic phase, patients who keep as physically active as possible seem to do better than others. | Therapies of Eosinophilia-Myalgia Syndrome. TreatmentThere are no peer-reviewed guidelines for the standard of care of EMS patients. Because of the variety and diversity of how EMS manifests, patients are treated based on their individual symptoms and may be prescribed muscle relaxants, analgesics, and diuretics.High doses of corticosteroids may help reduce inflammation, However, most researchers have concluded that this course of treatment does not reduce the severity or duration of EMS symptoms. In the acute phase, patients who have intense muscle pain and cramps may need to limit or avoid strenuous physical activity. Some patients have required hospitalization. In the chronic phase, patients who keep as physically active as possible seem to do better than others. | 410 | Eosinophilia-Myalgia Syndrome |
nord_411_0 | Overview of Eosinophilic Esophagitis | Eosinophilic esophagitis (EoE) is a chronic disorder of the digestive system in which large numbers of a particular type of white blood cell called eosinophils are present in the esophagus. The esophagus is the tube that carries food from the mouth to the stomach. Eosinophils are part of the immune system and play a role in immune regulation and fighting certain infection, and their accumulation is a hallmark of allergic diseases. This condition is characterized by vomiting, stomach or chest pain, failure to thrive (particularly in children), difficulty swallowing and food getting stuck in the throat. | Overview of Eosinophilic Esophagitis. Eosinophilic esophagitis (EoE) is a chronic disorder of the digestive system in which large numbers of a particular type of white blood cell called eosinophils are present in the esophagus. The esophagus is the tube that carries food from the mouth to the stomach. Eosinophils are part of the immune system and play a role in immune regulation and fighting certain infection, and their accumulation is a hallmark of allergic diseases. This condition is characterized by vomiting, stomach or chest pain, failure to thrive (particularly in children), difficulty swallowing and food getting stuck in the throat. | 411 | Eosinophilic Esophagitis |
nord_411_1 | Symptoms of Eosinophilic Esophagitis | The symptoms of eosinophilic esophagitis are variable, especially in people of different ages. Common symptoms include difficulty swallowing (dysphagia); food getting stuck in the throat (impaction); nausea; vomiting; poor growth; weight loss; stomach pain; poor appetite; and malnutrition. Because of an overlap of these symptoms with gastroesophageal reflux disease (GERD), many patients are initially thought to have GERD, but EoE patients do not typically have GERD upon diagnostic workup. Recently, it has been appreciated that some patients with pronounced esophageal eosinophilia can have complete responses to proton pump inhibitor (PPI) therapy, typically used for the treatment of GERD, but these patients do not typically have GERD but rather EoE that is responsive to PPIs. PPI exert this therapeutic effect by direct action rather than blockade of stomach acid alone. For example, PPIs are also ligands (bind to) the aryl hydrocarbon receptor and this elicits an anti-inflammatory and anti-proliferative effect in the esophagus. PPI responsive esophageal eosinophilia has largely overlapping clinical, histological and molecular characteristics with PPI-resistant esophageal eosinophilia, but entities are referred to as EoE and usage of PPIs is now considered a treatment of EoE. Individuals with eosinophilic esophagitis often have allergic diseases such as asthma or eczema. | Symptoms of Eosinophilic Esophagitis. The symptoms of eosinophilic esophagitis are variable, especially in people of different ages. Common symptoms include difficulty swallowing (dysphagia); food getting stuck in the throat (impaction); nausea; vomiting; poor growth; weight loss; stomach pain; poor appetite; and malnutrition. Because of an overlap of these symptoms with gastroesophageal reflux disease (GERD), many patients are initially thought to have GERD, but EoE patients do not typically have GERD upon diagnostic workup. Recently, it has been appreciated that some patients with pronounced esophageal eosinophilia can have complete responses to proton pump inhibitor (PPI) therapy, typically used for the treatment of GERD, but these patients do not typically have GERD but rather EoE that is responsive to PPIs. PPI exert this therapeutic effect by direct action rather than blockade of stomach acid alone. For example, PPIs are also ligands (bind to) the aryl hydrocarbon receptor and this elicits an anti-inflammatory and anti-proliferative effect in the esophagus. PPI responsive esophageal eosinophilia has largely overlapping clinical, histological and molecular characteristics with PPI-resistant esophageal eosinophilia, but entities are referred to as EoE and usage of PPIs is now considered a treatment of EoE. Individuals with eosinophilic esophagitis often have allergic diseases such as asthma or eczema. | 411 | Eosinophilic Esophagitis |
nord_411_2 | Causes of Eosinophilic Esophagitis | Eosinophilic esophagitis is associated with the presence of many eosinophils in the esophagus driven by an immune response to a variety of foods. The production and accumulation of eosinophils may be caused by many factors such as immune hypersensitivity responses to particular foods or environmental proteins (allergens) in some affected individuals. Most individuals with this condition have been found to have an unusually high expression of a particular gene called eotaxin-3. This gene codes for a protein that is important in controlling the accumulation of eosinophils. Eosinophilic esophagitis can run in families but the risk for additional family members is <5% unless they are twins with the EoE patient. Several genes have been identified to contribute to EoE including CAPN14 and TSLP. A fundamental step in the development of EoE is loss of esophageal barrier function which is mediated by loss of anti-proteases such as SPINK7 and desmosomal proteins such as desmoglein-1 and dysregulated expression of the CAPN14 gene product (calpain-14). It is now appreciated that esophageal eosinophilia as well as other pathological features of EoE are driven by a strong cellular response of the adaptive immune system, primarily orchestrated by type 2 helper T cells (Th2 cells). These cells, along with esophageal mast cells, produce high levels of the cytokine interleukin (IL)-13, which is essential in eliciting multiple pathological processes in the esophagus. | Causes of Eosinophilic Esophagitis. Eosinophilic esophagitis is associated with the presence of many eosinophils in the esophagus driven by an immune response to a variety of foods. The production and accumulation of eosinophils may be caused by many factors such as immune hypersensitivity responses to particular foods or environmental proteins (allergens) in some affected individuals. Most individuals with this condition have been found to have an unusually high expression of a particular gene called eotaxin-3. This gene codes for a protein that is important in controlling the accumulation of eosinophils. Eosinophilic esophagitis can run in families but the risk for additional family members is <5% unless they are twins with the EoE patient. Several genes have been identified to contribute to EoE including CAPN14 and TSLP. A fundamental step in the development of EoE is loss of esophageal barrier function which is mediated by loss of anti-proteases such as SPINK7 and desmosomal proteins such as desmoglein-1 and dysregulated expression of the CAPN14 gene product (calpain-14). It is now appreciated that esophageal eosinophilia as well as other pathological features of EoE are driven by a strong cellular response of the adaptive immune system, primarily orchestrated by type 2 helper T cells (Th2 cells). These cells, along with esophageal mast cells, produce high levels of the cytokine interleukin (IL)-13, which is essential in eliciting multiple pathological processes in the esophagus. | 411 | Eosinophilic Esophagitis |
nord_411_3 | Affects of Eosinophilic Esophagitis | The frequency of eosinophilic esophagitis has been estimated to be approximately 1 in 2,000 individuals. This condition has been reported in multiple continents including Europe, Australia and America. | Affects of Eosinophilic Esophagitis. The frequency of eosinophilic esophagitis has been estimated to be approximately 1 in 2,000 individuals. This condition has been reported in multiple continents including Europe, Australia and America. | 411 | Eosinophilic Esophagitis |
nord_411_4 | Related disorders of Eosinophilic Esophagitis | Symptoms of the following disorders are similar to those of eosinophilic esophagitis. Comparisons may be useful for a differential diagnosis:Gastroesophageal reflux disease (GERD) is a digestive disorder characterized by reflux of the contents of the stomach or small intestines into the esophagus. Symptoms of gastroesophageal reflux may include a sensation of warmth or burning rising up to the neck area (heartburn or pyrosis), swallowing difficulties (dysphagia) and chest pain. This condition is a common problem and may be a symptom of other gastrointestinal disorders.Ulcerative colitis is an inflammatory bowel disease (IBD) of unknown cause. It is characterized by chronic inflammation and ulceration of the lining of the major portion of the large intestine (colon). In most affected individuals, the lowest region of the large intestine, known as the rectum, is initially affected. As the disease progresses, some or the entire colon may become involved. Although associated symptoms and findings usually become apparent during adolescence or young adulthood, some individuals may experience an initial episode between 50 and 70 years of age. In other cases, symptoms may occur as early as the first year of life. (For more information about this condition, choose “ulcerative colitis” as your search term in the Rare Disease Database.)Crohn’s disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. The lower portion of the small intestine (ileum) and the rectum are most commonly affected by this disorder, but the esophagus can also be involved. Symptoms may include watery diarrhea, abdominal pain, fever and weight loss. The exact cause of Crohn’s disease is unknown. | Related disorders of Eosinophilic Esophagitis. Symptoms of the following disorders are similar to those of eosinophilic esophagitis. Comparisons may be useful for a differential diagnosis:Gastroesophageal reflux disease (GERD) is a digestive disorder characterized by reflux of the contents of the stomach or small intestines into the esophagus. Symptoms of gastroesophageal reflux may include a sensation of warmth or burning rising up to the neck area (heartburn or pyrosis), swallowing difficulties (dysphagia) and chest pain. This condition is a common problem and may be a symptom of other gastrointestinal disorders.Ulcerative colitis is an inflammatory bowel disease (IBD) of unknown cause. It is characterized by chronic inflammation and ulceration of the lining of the major portion of the large intestine (colon). In most affected individuals, the lowest region of the large intestine, known as the rectum, is initially affected. As the disease progresses, some or the entire colon may become involved. Although associated symptoms and findings usually become apparent during adolescence or young adulthood, some individuals may experience an initial episode between 50 and 70 years of age. In other cases, symptoms may occur as early as the first year of life. (For more information about this condition, choose “ulcerative colitis” as your search term in the Rare Disease Database.)Crohn’s disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. The lower portion of the small intestine (ileum) and the rectum are most commonly affected by this disorder, but the esophagus can also be involved. Symptoms may include watery diarrhea, abdominal pain, fever and weight loss. The exact cause of Crohn’s disease is unknown. | 411 | Eosinophilic Esophagitis |
nord_411_5 | Diagnosis of Eosinophilic Esophagitis | The diagnosis of eosinophilic esophagitis is often delayed because of a lack of awareness of this condition. A small tube is inserted through the mouth into the esophagus (upper endoscopy) and small tissue samples are removed (biopsy) in order to count eosinophils and look for tissue injury and thickening of tissue.Elevated expression of eotaxin-3 is part of a whole panel of dysregulated genes expressed by the esophagus of EoE patients, termed the “EoE transcriptome” which divides patients into different subgroups, referred to as endotypes. | Diagnosis of Eosinophilic Esophagitis. The diagnosis of eosinophilic esophagitis is often delayed because of a lack of awareness of this condition. A small tube is inserted through the mouth into the esophagus (upper endoscopy) and small tissue samples are removed (biopsy) in order to count eosinophils and look for tissue injury and thickening of tissue.Elevated expression of eotaxin-3 is part of a whole panel of dysregulated genes expressed by the esophagus of EoE patients, termed the “EoE transcriptome” which divides patients into different subgroups, referred to as endotypes. | 411 | Eosinophilic Esophagitis |
nord_411_6 | Therapies of Eosinophilic Esophagitis | Treatment
Many children and adults with EoE show improvement with proton pump inhibitor therapy, as well diet modification so that allergenic food is removed, most commonly milk, egg, soy, wheat, nuts and fish. These foods are sometimes removed all at once or in a gradual manner, starting first with milk. Some affected individuals require a liquid formula diet fed through a feeding tube. Steroid medications are often used to control inflammation. Steroids are typically given by topical delivery by swallowing formulations designed for asthma such as inhaled fluticasone or by using a slurry of liquid budesonide. Additional endoscopies and biopsies are usually necessary to monitor the effectiveness of treatment.In 2022, a biological agent that blocks the signaling of IL-13 and the related cytokine IL-4, called dupilumab (Dupixent), was approved by the U.S. Food and Drug Administration (FDA) to treat adults and children 12 years and older with EoE. This is the first FDA approved treatment for EoE. Other medicines (e.g., PPIs and steroids) are used as off-label although a swallowed glucocorticoid (budesonide) is now approved in Europe and Canada (under the tradename Jorveza). | Therapies of Eosinophilic Esophagitis. Treatment
Many children and adults with EoE show improvement with proton pump inhibitor therapy, as well diet modification so that allergenic food is removed, most commonly milk, egg, soy, wheat, nuts and fish. These foods are sometimes removed all at once or in a gradual manner, starting first with milk. Some affected individuals require a liquid formula diet fed through a feeding tube. Steroid medications are often used to control inflammation. Steroids are typically given by topical delivery by swallowing formulations designed for asthma such as inhaled fluticasone or by using a slurry of liquid budesonide. Additional endoscopies and biopsies are usually necessary to monitor the effectiveness of treatment.In 2022, a biological agent that blocks the signaling of IL-13 and the related cytokine IL-4, called dupilumab (Dupixent), was approved by the U.S. Food and Drug Administration (FDA) to treat adults and children 12 years and older with EoE. This is the first FDA approved treatment for EoE. Other medicines (e.g., PPIs and steroids) are used as off-label although a swallowed glucocorticoid (budesonide) is now approved in Europe and Canada (under the tradename Jorveza). | 411 | Eosinophilic Esophagitis |
nord_412_0 | Overview of Eosinophilic Fasciitis | SummaryEosinophilic fasciitis is a rare disorder characterized by inflammation of the tough band of fibrous tissue beneath the skin (fascia). The arms and legs are most often affected. Inflammation is caused by the abnormal accumulation of certain white blood cells including eosinophils in the fascia. Eosinophilic fasciitis eventually causes the skin to swell and slowly thicken and harden (induration). The disorder most commonly affects middle-aged adults. The specific symptoms and severity of eosinophilic fasciitis can vary from one individual to another. The exact cause of eosinophilic fasciitis is unknown.IntroductionEosinophilic fasciitis, also known as Shulman syndrome, is named after the physician who, in 1974, was the first to report on the disorder in the medical literature. Some researchers believe that eosinophilic fasciitis is a variant of scleroderma (systemic sclerosis), an autoimmune connective tissue disorder characterized by hardening of the skin. However, these entities can usually be distinguished by their clinical characteristics. | Overview of Eosinophilic Fasciitis. SummaryEosinophilic fasciitis is a rare disorder characterized by inflammation of the tough band of fibrous tissue beneath the skin (fascia). The arms and legs are most often affected. Inflammation is caused by the abnormal accumulation of certain white blood cells including eosinophils in the fascia. Eosinophilic fasciitis eventually causes the skin to swell and slowly thicken and harden (induration). The disorder most commonly affects middle-aged adults. The specific symptoms and severity of eosinophilic fasciitis can vary from one individual to another. The exact cause of eosinophilic fasciitis is unknown.IntroductionEosinophilic fasciitis, also known as Shulman syndrome, is named after the physician who, in 1974, was the first to report on the disorder in the medical literature. Some researchers believe that eosinophilic fasciitis is a variant of scleroderma (systemic sclerosis), an autoimmune connective tissue disorder characterized by hardening of the skin. However, these entities can usually be distinguished by their clinical characteristics. | 412 | Eosinophilic Fasciitis |
nord_412_1 | Symptoms of Eosinophilic Fasciitis | Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about eosinophilic fasciitis is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other unknown influencing factors prevent physicians from developing an accurate picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below.The onset of eosinophilic fasciitis is often sudden (acute), developing over a few days or weeks. In these cases, the disorder may progress rapidly. Less often, a less severe form of disorder that progresses more slowly can develop. In many cases, an episode of eosinophilic fasciitis follows strenuous physical exercise or activity.Specific symptoms and severity can vary greatly from one individual to another. Both sides of the body are affected in most cases, but rare cases where only one side of the body is affected have also been reported (unilateral eosinophilic fasciitis).Initial symptoms associated with eosinophilic fasciitis include pain and swelling and inflammation of the skin, especially of the arms and legs. The arms and forearms are affected more often than the legs and thighs. The hands and feet are usually unaffected. Affected areas may initially become tender. Affected individuals may develop characteristic shallow grooves or furrows in the skin that run along the paths of underlying veins (venous grooving). Affected skin may become reddened (erythema) and warm and gradually thicken and harden (induration). Eventually, the skin may lose its elasticity and develop a characteristic woody, puckered, or orange peel texture. These progressive skin changes can potentially limit the mobility of the arms and legs. In some cases, the joints in the arms and legs may become stuck in unusual positions (contractures). Other areas that may be rarely affected include the face, abdomen, buttocks, and chest. In some cases, localized areas of scleroderma (morphea) may develop.Some affected individuals may develop nonspecific symptoms including fatigue, weight loss, fever, and a general feeling of ill health (malaise) or a general lack of strength (asthenia). Although muscle strength is usually unaffected, muscle pain (myalgia) and inflammation of the joints (arthritis) often occurs. Bone pain has also been reported.Some cases of eosinophilic fasciitis may be associated with carpal tunnel syndrome, a condition caused by compression of peripheral nerves affecting one or both hands. It is characterized by a sensation of numbness, tingling, burning and/or pain in the hand and wrist. Symptoms are slowly progressive and may eventually make it difficult to form a fist or grasp small objects.The internal organs (viscera) may be affected in some cases, although only mildly. Blood (hematological) abnormalities have been reported including low levels of circulating red blood cells (anemia) and low levels of circulating platelets (thrombocytopenia). Anemia may cause tiredness, increased need for sleep, weakness, lightheadedness, dizziness, irritability, headaches, pale skin color, and difficulty breathing. Thrombocytopenia may cause individuals to be more susceptible to excessive bruising following minimal injury and to spontaneous bleeding from the mucous membranes, especially those of the gums and nose. | Symptoms of Eosinophilic Fasciitis. Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about eosinophilic fasciitis is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other unknown influencing factors prevent physicians from developing an accurate picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below.The onset of eosinophilic fasciitis is often sudden (acute), developing over a few days or weeks. In these cases, the disorder may progress rapidly. Less often, a less severe form of disorder that progresses more slowly can develop. In many cases, an episode of eosinophilic fasciitis follows strenuous physical exercise or activity.Specific symptoms and severity can vary greatly from one individual to another. Both sides of the body are affected in most cases, but rare cases where only one side of the body is affected have also been reported (unilateral eosinophilic fasciitis).Initial symptoms associated with eosinophilic fasciitis include pain and swelling and inflammation of the skin, especially of the arms and legs. The arms and forearms are affected more often than the legs and thighs. The hands and feet are usually unaffected. Affected areas may initially become tender. Affected individuals may develop characteristic shallow grooves or furrows in the skin that run along the paths of underlying veins (venous grooving). Affected skin may become reddened (erythema) and warm and gradually thicken and harden (induration). Eventually, the skin may lose its elasticity and develop a characteristic woody, puckered, or orange peel texture. These progressive skin changes can potentially limit the mobility of the arms and legs. In some cases, the joints in the arms and legs may become stuck in unusual positions (contractures). Other areas that may be rarely affected include the face, abdomen, buttocks, and chest. In some cases, localized areas of scleroderma (morphea) may develop.Some affected individuals may develop nonspecific symptoms including fatigue, weight loss, fever, and a general feeling of ill health (malaise) or a general lack of strength (asthenia). Although muscle strength is usually unaffected, muscle pain (myalgia) and inflammation of the joints (arthritis) often occurs. Bone pain has also been reported.Some cases of eosinophilic fasciitis may be associated with carpal tunnel syndrome, a condition caused by compression of peripheral nerves affecting one or both hands. It is characterized by a sensation of numbness, tingling, burning and/or pain in the hand and wrist. Symptoms are slowly progressive and may eventually make it difficult to form a fist or grasp small objects.The internal organs (viscera) may be affected in some cases, although only mildly. Blood (hematological) abnormalities have been reported including low levels of circulating red blood cells (anemia) and low levels of circulating platelets (thrombocytopenia). Anemia may cause tiredness, increased need for sleep, weakness, lightheadedness, dizziness, irritability, headaches, pale skin color, and difficulty breathing. Thrombocytopenia may cause individuals to be more susceptible to excessive bruising following minimal injury and to spontaneous bleeding from the mucous membranes, especially those of the gums and nose. | 412 | Eosinophilic Fasciitis |
nord_412_2 | Causes of Eosinophilic Fasciitis | The exact cause of eosinophilic fasciitis is unknown (idiopathic). Researchers believe that the disorder results due to a nonspecific triggering event that causes an abnormal immune system response, specifically an abnormal allergic or inflammatory reaction. This abnormal response causes the overproduction and accumulation of eosinophils and other white blood cells in certain tissues of the body. The exact reason for this overproduction and accumulation is not fully understood.Researchers have speculated that exposure to certain toxins, drugs such as simvastatin or phenytoin, or other environmental factors including infectious agents (Borrelia burgdorferi) may play a role in the development of eosinophilic fasciitis. Such environmental factors may be the underlying cause the abnormal inflammatory response in affected tissue.Some scientists believe that eosinophilic fasciitis may be a variant of scleroderma or morphea (localized scleroderma). These rare disorders are characterized by the hardening and thickening of skin and surrounding tissue, often due to the malfunction of the immune system.
Some cases of eosinophilic fasciitis have been related to the ingestion of a dietary supplement known as L-tryptophan. Tryptophan is an essential amino acid found in numerous foods including poultry and was used as a sleep aid or to treat depression. In 1989 L-tryptophan ingestion was linked to an epidemic of a disorder known as eosinophilia-myalgia syndrome. (For more information on scleroderma, morphea or eosinophilia-myalgia syndrome, see the Related Disorders section of this report.)Some reports suggest that eosinophilic fasciitis may be associated with extreme physical activity. Some cases developed following strenuous exercise (exercise-induced eosinophilic fasciitis). Trauma has also been associated with the disorder.Some researchers believe eosinophilic fasciitis is one of several disorders that should be grouped under the designation fasciitis-panniculitis syndrome (FPS). Disorders under this designation are characterized by hardening and thickening of the skin due to inflammation and fibrosis.In some cases, eosinophilic fasciitis can be associated with another disorder such as acquired aplastic anemia, hemolytic anemia, myelodysplastic syndromes, myeloproliferative disorders, lymphoma, leukemia, thyroid disorders, and primary biliary cirrhosis. The relationship between these disorders and eosinophilic fasciitis, if any, is not completely understood. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disorders Database.) | Causes of Eosinophilic Fasciitis. The exact cause of eosinophilic fasciitis is unknown (idiopathic). Researchers believe that the disorder results due to a nonspecific triggering event that causes an abnormal immune system response, specifically an abnormal allergic or inflammatory reaction. This abnormal response causes the overproduction and accumulation of eosinophils and other white blood cells in certain tissues of the body. The exact reason for this overproduction and accumulation is not fully understood.Researchers have speculated that exposure to certain toxins, drugs such as simvastatin or phenytoin, or other environmental factors including infectious agents (Borrelia burgdorferi) may play a role in the development of eosinophilic fasciitis. Such environmental factors may be the underlying cause the abnormal inflammatory response in affected tissue.Some scientists believe that eosinophilic fasciitis may be a variant of scleroderma or morphea (localized scleroderma). These rare disorders are characterized by the hardening and thickening of skin and surrounding tissue, often due to the malfunction of the immune system.
Some cases of eosinophilic fasciitis have been related to the ingestion of a dietary supplement known as L-tryptophan. Tryptophan is an essential amino acid found in numerous foods including poultry and was used as a sleep aid or to treat depression. In 1989 L-tryptophan ingestion was linked to an epidemic of a disorder known as eosinophilia-myalgia syndrome. (For more information on scleroderma, morphea or eosinophilia-myalgia syndrome, see the Related Disorders section of this report.)Some reports suggest that eosinophilic fasciitis may be associated with extreme physical activity. Some cases developed following strenuous exercise (exercise-induced eosinophilic fasciitis). Trauma has also been associated with the disorder.Some researchers believe eosinophilic fasciitis is one of several disorders that should be grouped under the designation fasciitis-panniculitis syndrome (FPS). Disorders under this designation are characterized by hardening and thickening of the skin due to inflammation and fibrosis.In some cases, eosinophilic fasciitis can be associated with another disorder such as acquired aplastic anemia, hemolytic anemia, myelodysplastic syndromes, myeloproliferative disorders, lymphoma, leukemia, thyroid disorders, and primary biliary cirrhosis. The relationship between these disorders and eosinophilic fasciitis, if any, is not completely understood. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disorders Database.) | 412 | Eosinophilic Fasciitis |
nord_412_3 | Affects of Eosinophilic Fasciitis | Eosinophilic fasciitis affects both sexes. Some reports suggest that women are affected with greater frequency than men. The disorder can occur at any age (with age at diagnosis ranging from 1-88), but most often occurs in individuals between 30-60 years of age. It occurs with greater frequency in Caucasians. Approximately 300 cases have been reported in the medical literature. | Affects of Eosinophilic Fasciitis. Eosinophilic fasciitis affects both sexes. Some reports suggest that women are affected with greater frequency than men. The disorder can occur at any age (with age at diagnosis ranging from 1-88), but most often occurs in individuals between 30-60 years of age. It occurs with greater frequency in Caucasians. Approximately 300 cases have been reported in the medical literature. | 412 | Eosinophilic Fasciitis |
nord_412_4 | Related disorders of Eosinophilic Fasciitis | Symptoms of the following disorders can be similar to those of eosinophilic fasciitis. Comparisons may be useful for a differential diagnosis.Scleroderma is a rare connective tissue disorder characterized by abnormally increased production and accumulation of collagen, the body’s major structural protein, in skin and other organs of the body. There are systemic and localized forms of scleroderma. Systemic scleroderma is characterized by hardening (induration) and thickening of the skin and abnormal degenerative changes and formation of fibrous tissue (fibrosis) in certain organs of the body including the lungs, heart, kidneys, and GI tract. Associated symptoms, which may vary widely from case to case, may include abnormal discoloration of and pain affecting the fingers and toes upon exposure to cold temperatures (Raynaud’s phenomenon); abnormal tightness, thickening, “waxiness,” and loss of elasticity of the skin; shortness of breath; difficulty swallowing; muscle weakness; joint pain; heart abnormalities including irregular heartbeats (palpitations); kidney (renal) abnormalities; and/or other symptoms and findings. In individuals with localized scleroderma, involvement is restricted to the skin, tissue under the skin (subcutaneous tissue), and, in some cases, underlying muscle and bone. Linear scleroderma is a localized form of scleroderma that may involve only certain areas of the body, such as an arm, a leg, or a portion of the face. It is characterized by multiple lesions of the skin, abnormally increased or decreased skin pigmentation (hyper- or hypopigmentation), and associated atrophy of the skin, subcutaneous tissue, muscle, and bone. Although the exact cause of scleroderma is unknown, researchers suggest that the disorder represents an abnormal autoimmune response. (For further information, choose “scleroderma” as your search term in the Rare Disease Database.)Morphea, also known as localized scleroderma, is a rare skin disorder characterized by the accumulation of collagen in the skin and subcutaneous tissues. Affected tissue may thicken and harden in response to inflammation caused by collagen accumulation. Individuals with morphea may not have any apparent symptoms (asymptomatic). Skin discoloration and joint pain (arthralgia) may occur in some cases. The exact cause of morphea is unknown, although it is believed to be an autoimmune disorder.Eosinophilia-myalgia syndrome occurred as an epidemic in 1989 associated with the ingestion of contaminated L-tryptophan, a dietary supplement widely sold at that time. The contaminant remains unknown. This syndrome abruptly caused severe, disabling, chronic muscle pain (myalgia); skin symptoms such as inflammation of the tough band of fibrous tissue beneath the skin (fascia); and other neurotoxic reactions. Affected individuals had elevated levels of certain white blood cells (eosinophils) in various tissues of the body (eosinophilia). Since the epidemic, cases of eosinophilia-myalgia syndrome have occurred rarely. Diagnosis is not easy and depends on finding unusually high levels of eosinophils (circulating white blood cells) associated with severe myalgia (and the findings noted above). For more information on this disorder, choose “eosinophilia myalgia” as your search term in the Rare Disease Database.)The Spanish toxic oil syndrome due to ingestion of contaminated rapeseed oil occurred as an epidemic in 1981 and caused skin involvement similar to eosinophilic fasciitis. The epidemic abruptly ceased once the contaminated rapeseed oil was no longed consumed.Eosinophilic disorder is a general term for any disorder characterized by infiltration of the skin and tissue by a certain type of white blood cell called eosinophils, including disease resulting from arthropod bites, infections, and drug reactions. Churg-Strauss syndrome, hypereosinophilic syndrome and eosinophilic cellulitis are examples of disorders characterized by elevated levels of eosinophils. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.) | Related disorders of Eosinophilic Fasciitis. Symptoms of the following disorders can be similar to those of eosinophilic fasciitis. Comparisons may be useful for a differential diagnosis.Scleroderma is a rare connective tissue disorder characterized by abnormally increased production and accumulation of collagen, the body’s major structural protein, in skin and other organs of the body. There are systemic and localized forms of scleroderma. Systemic scleroderma is characterized by hardening (induration) and thickening of the skin and abnormal degenerative changes and formation of fibrous tissue (fibrosis) in certain organs of the body including the lungs, heart, kidneys, and GI tract. Associated symptoms, which may vary widely from case to case, may include abnormal discoloration of and pain affecting the fingers and toes upon exposure to cold temperatures (Raynaud’s phenomenon); abnormal tightness, thickening, “waxiness,” and loss of elasticity of the skin; shortness of breath; difficulty swallowing; muscle weakness; joint pain; heart abnormalities including irregular heartbeats (palpitations); kidney (renal) abnormalities; and/or other symptoms and findings. In individuals with localized scleroderma, involvement is restricted to the skin, tissue under the skin (subcutaneous tissue), and, in some cases, underlying muscle and bone. Linear scleroderma is a localized form of scleroderma that may involve only certain areas of the body, such as an arm, a leg, or a portion of the face. It is characterized by multiple lesions of the skin, abnormally increased or decreased skin pigmentation (hyper- or hypopigmentation), and associated atrophy of the skin, subcutaneous tissue, muscle, and bone. Although the exact cause of scleroderma is unknown, researchers suggest that the disorder represents an abnormal autoimmune response. (For further information, choose “scleroderma” as your search term in the Rare Disease Database.)Morphea, also known as localized scleroderma, is a rare skin disorder characterized by the accumulation of collagen in the skin and subcutaneous tissues. Affected tissue may thicken and harden in response to inflammation caused by collagen accumulation. Individuals with morphea may not have any apparent symptoms (asymptomatic). Skin discoloration and joint pain (arthralgia) may occur in some cases. The exact cause of morphea is unknown, although it is believed to be an autoimmune disorder.Eosinophilia-myalgia syndrome occurred as an epidemic in 1989 associated with the ingestion of contaminated L-tryptophan, a dietary supplement widely sold at that time. The contaminant remains unknown. This syndrome abruptly caused severe, disabling, chronic muscle pain (myalgia); skin symptoms such as inflammation of the tough band of fibrous tissue beneath the skin (fascia); and other neurotoxic reactions. Affected individuals had elevated levels of certain white blood cells (eosinophils) in various tissues of the body (eosinophilia). Since the epidemic, cases of eosinophilia-myalgia syndrome have occurred rarely. Diagnosis is not easy and depends on finding unusually high levels of eosinophils (circulating white blood cells) associated with severe myalgia (and the findings noted above). For more information on this disorder, choose “eosinophilia myalgia” as your search term in the Rare Disease Database.)The Spanish toxic oil syndrome due to ingestion of contaminated rapeseed oil occurred as an epidemic in 1981 and caused skin involvement similar to eosinophilic fasciitis. The epidemic abruptly ceased once the contaminated rapeseed oil was no longed consumed.Eosinophilic disorder is a general term for any disorder characterized by infiltration of the skin and tissue by a certain type of white blood cell called eosinophils, including disease resulting from arthropod bites, infections, and drug reactions. Churg-Strauss syndrome, hypereosinophilic syndrome and eosinophilic cellulitis are examples of disorders characterized by elevated levels of eosinophils. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.) | 412 | Eosinophilic Fasciitis |
nord_412_5 | Diagnosis of Eosinophilic Fasciitis | A diagnosis of eosinophilic fasciitis is suspected based upon a detailed patient history, a thorough clinical evaluation, and various laboratory studies. Characteristic skin grooves called venous grooving are typically present. The prayer sig. (when someone tries to join hands as in prayer but, cannot press the hands flat so they remain curved with just the fingers touching) is indicative of problems with joint mobility and is associated with eosinophilic fasciitis. Clinical Testing and WorkupLaboratory studies can include blood tests that reveal elevated levels of eosinophils in the blood (eosinophilia) or increased levels of certain proteins (immunoglobulins), which are used by the immune system to destroy foreign or invading substances in the body. In some cases, an erythrocyte sedimentation rate (ESR) test may be performed. An ESR test measures the rate at which red blood cells settle in a tube of anticoagulated blood. An elevated ESR indicates that inflammation is present.Magnetic resonance imaging (MRI) can reveal characteristic changes in the fascia including fascial thickening. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.A diagnosis of eosinophilic fasciitis is confirmed by surgical removal and microscopic evaluation (biopsy) of affected tissue. A biopsy demonstrates thickening and inflammation of fascia and surrounding tissue. | Diagnosis of Eosinophilic Fasciitis. A diagnosis of eosinophilic fasciitis is suspected based upon a detailed patient history, a thorough clinical evaluation, and various laboratory studies. Characteristic skin grooves called venous grooving are typically present. The prayer sig. (when someone tries to join hands as in prayer but, cannot press the hands flat so they remain curved with just the fingers touching) is indicative of problems with joint mobility and is associated with eosinophilic fasciitis. Clinical Testing and WorkupLaboratory studies can include blood tests that reveal elevated levels of eosinophils in the blood (eosinophilia) or increased levels of certain proteins (immunoglobulins), which are used by the immune system to destroy foreign or invading substances in the body. In some cases, an erythrocyte sedimentation rate (ESR) test may be performed. An ESR test measures the rate at which red blood cells settle in a tube of anticoagulated blood. An elevated ESR indicates that inflammation is present.Magnetic resonance imaging (MRI) can reveal characteristic changes in the fascia including fascial thickening. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.A diagnosis of eosinophilic fasciitis is confirmed by surgical removal and microscopic evaluation (biopsy) of affected tissue. A biopsy demonstrates thickening and inflammation of fascia and surrounding tissue. | 412 | Eosinophilic Fasciitis |
nord_412_6 | Therapies of Eosinophilic Fasciitis | TreatmentThe treatment of eosinophilic fasciitis is directed toward preventing and alleviating tissue inflammation. In some cases, affected individuals improve without treatment (spontaneous remission). Many individuals respond favorably to corticosteroid therapy, and the drug prednisone is often prescribed. Prednisone therapy may be required for two months or longer. In many cases, high doses of corticosteroids are used at first and slowly tapered off. Cases have been reported where eosinophilic fasciitis eventually recurred following corticosteroid therapy.Additional treatment is symptomatic and supportive. For example, surgical decompression of affected nerves may be used to treat carpal tunnel syndrome. Surgery may also be recommended to treat contractures. Non-steroidal anti-inflammatories (NSAIDs) may be used to provide relief as well. Physical therapy may be beneficial in some cases. | Therapies of Eosinophilic Fasciitis. TreatmentThe treatment of eosinophilic fasciitis is directed toward preventing and alleviating tissue inflammation. In some cases, affected individuals improve without treatment (spontaneous remission). Many individuals respond favorably to corticosteroid therapy, and the drug prednisone is often prescribed. Prednisone therapy may be required for two months or longer. In many cases, high doses of corticosteroids are used at first and slowly tapered off. Cases have been reported where eosinophilic fasciitis eventually recurred following corticosteroid therapy.Additional treatment is symptomatic and supportive. For example, surgical decompression of affected nerves may be used to treat carpal tunnel syndrome. Surgery may also be recommended to treat contractures. Non-steroidal anti-inflammatories (NSAIDs) may be used to provide relief as well. Physical therapy may be beneficial in some cases. | 412 | Eosinophilic Fasciitis |
nord_413_0 | Overview of Eosinophilic Gastroenteritis | Eosinophilic gastroenteritis is a rare digestive disease characterized by the triad of eosinophilic infiltration of segments of the gastrointestinal tract, abnormalities of gastrointestinal function (varying from dyspepsia and obstruction to diarrhea and ascites) and exclusion of other diseases with peripheral eosinophilia. Eosinophilic esophagitis is increasingly being recognized and is not included in this report. | Overview of Eosinophilic Gastroenteritis. Eosinophilic gastroenteritis is a rare digestive disease characterized by the triad of eosinophilic infiltration of segments of the gastrointestinal tract, abnormalities of gastrointestinal function (varying from dyspepsia and obstruction to diarrhea and ascites) and exclusion of other diseases with peripheral eosinophilia. Eosinophilic esophagitis is increasingly being recognized and is not included in this report. | 413 | Eosinophilic Gastroenteritis |
nord_413_1 | Symptoms of Eosinophilic Gastroenteritis | Eosinophilic gastroenteritis may affect any part of the gastrointestinal tract from the esophagus to the rectum. Symptoms include dysphagia (sometimes presenting as food impaction), heartburn, abdominal pain, nausea, vomiting, diarrhea, weight loss, and bloating (ascites is possible). The eosinophilic infiltration may involve one or more layers of the gastrointestinal wall. The particular symptoms present in each person depend upon the layer and the location of involvement. Most commonly, the stomach wall and the small bowel are involved. Mucosal involvement leads to protein-losing enteropathy and malabsorption. Muscle layer involvement causes abdominal pain, vomiting, dyspeptic symptoms and bowel obstruction. Subserosal involvement predominantly causes ascites with marked eosinophilia. Sometimes eosinophilic pleural effusion is present. Eosinophilic gastroenteritis is a chronic, waxing and waning condition. | Symptoms of Eosinophilic Gastroenteritis. Eosinophilic gastroenteritis may affect any part of the gastrointestinal tract from the esophagus to the rectum. Symptoms include dysphagia (sometimes presenting as food impaction), heartburn, abdominal pain, nausea, vomiting, diarrhea, weight loss, and bloating (ascites is possible). The eosinophilic infiltration may involve one or more layers of the gastrointestinal wall. The particular symptoms present in each person depend upon the layer and the location of involvement. Most commonly, the stomach wall and the small bowel are involved. Mucosal involvement leads to protein-losing enteropathy and malabsorption. Muscle layer involvement causes abdominal pain, vomiting, dyspeptic symptoms and bowel obstruction. Subserosal involvement predominantly causes ascites with marked eosinophilia. Sometimes eosinophilic pleural effusion is present. Eosinophilic gastroenteritis is a chronic, waxing and waning condition. | 413 | Eosinophilic Gastroenteritis |
nord_413_2 | Causes of Eosinophilic Gastroenteritis | The exact cause of eosinophilic gastroenteritis is unknown. Some cases of this disease may be caused by a hypersensitivity to certain foods or other unknown allergens. Often, a family history of allergy is present. Atopy (asthma, hay fever or eczema) is present in a subset of patients. Food allergies are common. | Causes of Eosinophilic Gastroenteritis. The exact cause of eosinophilic gastroenteritis is unknown. Some cases of this disease may be caused by a hypersensitivity to certain foods or other unknown allergens. Often, a family history of allergy is present. Atopy (asthma, hay fever or eczema) is present in a subset of patients. Food allergies are common. | 413 | Eosinophilic Gastroenteritis |
nord_413_3 | Affects of Eosinophilic Gastroenteritis | Eosinophilic gastroenteritis is a rare disease (10/100.000) that affects both males and females, but is slightly more common among men. Peak prevalence is in children and adults 20-50 years of age. The reported prevalence has increased markedly, and this is probably due to prior under-diagnosis. People with a history of allergies, eczema, and seasonal asthma are more likely to develop this disease. | Affects of Eosinophilic Gastroenteritis. Eosinophilic gastroenteritis is a rare disease (10/100.000) that affects both males and females, but is slightly more common among men. Peak prevalence is in children and adults 20-50 years of age. The reported prevalence has increased markedly, and this is probably due to prior under-diagnosis. People with a history of allergies, eczema, and seasonal asthma are more likely to develop this disease. | 413 | Eosinophilic Gastroenteritis |
nord_413_4 | Related disorders of Eosinophilic Gastroenteritis | Symptoms of the following disorders can be similar to those of eosinophilic gastroenteritis. Comparisons may be useful for a differential diagnosis:Whipple’s disease is an uncommon digestive disorder of microbial origin that affects the lining of the small intestine and results in malabsorption of nutrients. This disorder may also affect other organs of the body. (For more information on this disorder, choose “Whipple” as your search term in the Rare Disease Database.)Refractory celiac disease is a chronic intestinal malabsorption disorder caused by intolerance to gluten, an insoluble component of wheat and other grains. Clinical and/or histologic improvement of symptoms follows withdrawal of dietary gluten-containing grains. (For more information on this disorder, choose “refractory celiac disease” as your search term in the Rare Disease Database.)Mastocytosis is a genetic disorder characterized by abnormal accumulations of a particular type of cell (mast cells) normally found in connective tissue. The liver, spleen, lungs, bone, skin and sometimes the membrane surrounding the brain and spine (meninges) may be affected. (For more information on this disorder, choose “mastocytosis” as your search term in the Rare Disease Database.)Tropical sprue, a disorder of unknown cause, is characterized by malabsorption, multiple nutritional deficiencies, and abnormalities in the small bowel mucosa. It appears to be acquired and related to environmental and nutritional conditions and is most prevalent in the Caribbean, South India and Southeast Asia. (For more information on this disorder, choose “tropical sprue” as your search term in the Rare Disease Database.)Hypereosinophilic syndrome is characterized by marked blood eosinophilia. It is related to disordered production of myeloid precursor cells or lymphoid T cells. It has a marked clinical heterogenicity. Hematologic malignancy has to be excluded.Crohn’s disease, also known as ileitis, regional enteritis, or granulomatous colitis, is a form of inflammatory bowel disease characterized by severe, chronic inflammation of the wall of the gastrointestinal tract. | Related disorders of Eosinophilic Gastroenteritis. Symptoms of the following disorders can be similar to those of eosinophilic gastroenteritis. Comparisons may be useful for a differential diagnosis:Whipple’s disease is an uncommon digestive disorder of microbial origin that affects the lining of the small intestine and results in malabsorption of nutrients. This disorder may also affect other organs of the body. (For more information on this disorder, choose “Whipple” as your search term in the Rare Disease Database.)Refractory celiac disease is a chronic intestinal malabsorption disorder caused by intolerance to gluten, an insoluble component of wheat and other grains. Clinical and/or histologic improvement of symptoms follows withdrawal of dietary gluten-containing grains. (For more information on this disorder, choose “refractory celiac disease” as your search term in the Rare Disease Database.)Mastocytosis is a genetic disorder characterized by abnormal accumulations of a particular type of cell (mast cells) normally found in connective tissue. The liver, spleen, lungs, bone, skin and sometimes the membrane surrounding the brain and spine (meninges) may be affected. (For more information on this disorder, choose “mastocytosis” as your search term in the Rare Disease Database.)Tropical sprue, a disorder of unknown cause, is characterized by malabsorption, multiple nutritional deficiencies, and abnormalities in the small bowel mucosa. It appears to be acquired and related to environmental and nutritional conditions and is most prevalent in the Caribbean, South India and Southeast Asia. (For more information on this disorder, choose “tropical sprue” as your search term in the Rare Disease Database.)Hypereosinophilic syndrome is characterized by marked blood eosinophilia. It is related to disordered production of myeloid precursor cells or lymphoid T cells. It has a marked clinical heterogenicity. Hematologic malignancy has to be excluded.Crohn’s disease, also known as ileitis, regional enteritis, or granulomatous colitis, is a form of inflammatory bowel disease characterized by severe, chronic inflammation of the wall of the gastrointestinal tract. | 413 | Eosinophilic Gastroenteritis |
nord_413_5 | Diagnosis of Eosinophilic Gastroenteritis | Some patients present with elevated IgE and eosinophilia of tissue and blood. A careful history may suggest to the physician that a biopsy is required. The results of the biopsy (endoscopic or full-thickness surgical biopsy) are usually diagnostic. | Diagnosis of Eosinophilic Gastroenteritis. Some patients present with elevated IgE and eosinophilia of tissue and blood. A careful history may suggest to the physician that a biopsy is required. The results of the biopsy (endoscopic or full-thickness surgical biopsy) are usually diagnostic. | 413 | Eosinophilic Gastroenteritis |
nord_413_6 | Therapies of Eosinophilic Gastroenteritis | TreatmentEliminating foods to which a person is allergic may prove helpful in some cases. The corticosteroid drug prednisone is usually an effective treatment for eosinophilic gastroenteritis. Sometimes budesonide can be helpful. Immunosuppressive drugs like azathioprine may be worth trying. Surgery may be necessary in severe cases in which there is an obstruction of the intestines. Other treatment is symptomatic and supportive. | Therapies of Eosinophilic Gastroenteritis. TreatmentEliminating foods to which a person is allergic may prove helpful in some cases. The corticosteroid drug prednisone is usually an effective treatment for eosinophilic gastroenteritis. Sometimes budesonide can be helpful. Immunosuppressive drugs like azathioprine may be worth trying. Surgery may be necessary in severe cases in which there is an obstruction of the intestines. Other treatment is symptomatic and supportive. | 413 | Eosinophilic Gastroenteritis |
nord_414_0 | Overview of Epidermal Nevus Syndromes | Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribution and appearance. Neurological abnormalities that can be associated with ENSs can include seizures, cognitive impairment, developmental delays and paralysis of one side of the body (hemiparesis). Skeletal abnormalities can include abnormal curvature of the spine, malformation of the hip and abnormalities of the arms and legs (e.g., underdevelopment or absence or overgrowth of limbs). Ocular abnormalities may include cataracts, clouding (opacity) of the cornea or partial absence of tissue of the iris or retina (colobomas). Endocrine abnormalities such as vitamin D-resistant rickets have been associated with Schimmelpenning syndrome. The specific symptoms and severity of ENSs can vary greatly from one person to another. Most ENSs occur randomly for no apparent reason (sporadically), most likely due to a gene mutation that occurs after fertilization (postzygotic mutation) and is present in only some of the cells of the body (mosaic pattern).The term “epidermal nevus syndrome” has generated significant controversy and confusion in the medical literature. Originally, the term was used to denote a disorder that was actually several different disorders erroneously grouped together. In the recent past, the term was used to denote a specific disorder now known as Schimmelpenning syndrome. However, the term epidermal nevus syndrome could be correctly applied to several different disorders. Therefore, the umbrella term “epidermal nevus syndromes” now represents a group of distinct disorders that have in common the presence of one of the various types of epidermal nevi. However, there is so far no general agreement how to classify the types of this diverse group of disorders, adding to the confusion within the medical literature. These disorders are quite different from one another and are not “variants” of each other as is sometimes mistakenly stated in the medical literature. In the future, as the genetic molecular basis of these disorders is better understood, the classification may change or expand. This report follows the classification from a review by Happle (J Am Acad Dermatol 2010).Two other terms that have been used to describe ENSs are “organoid nevus syndrome” and “keratinocytic nevus syndrome”. However, it is inappropriate to use these terms to denote a single disorder or interchangeably with epidermal nevus syndromes. Organoid nevus syndrome is a general term that could be applied to at least five different types of ENS. Keratinocytic nevus syndrome is a general term that could be applied to four different types of ENS.NORD has individual reports on specific ENSs including Schimmelpenning syndrome, Proteus syndrome, and CHILD syndrome. | Overview of Epidermal Nevus Syndromes. Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribution and appearance. Neurological abnormalities that can be associated with ENSs can include seizures, cognitive impairment, developmental delays and paralysis of one side of the body (hemiparesis). Skeletal abnormalities can include abnormal curvature of the spine, malformation of the hip and abnormalities of the arms and legs (e.g., underdevelopment or absence or overgrowth of limbs). Ocular abnormalities may include cataracts, clouding (opacity) of the cornea or partial absence of tissue of the iris or retina (colobomas). Endocrine abnormalities such as vitamin D-resistant rickets have been associated with Schimmelpenning syndrome. The specific symptoms and severity of ENSs can vary greatly from one person to another. Most ENSs occur randomly for no apparent reason (sporadically), most likely due to a gene mutation that occurs after fertilization (postzygotic mutation) and is present in only some of the cells of the body (mosaic pattern).The term “epidermal nevus syndrome” has generated significant controversy and confusion in the medical literature. Originally, the term was used to denote a disorder that was actually several different disorders erroneously grouped together. In the recent past, the term was used to denote a specific disorder now known as Schimmelpenning syndrome. However, the term epidermal nevus syndrome could be correctly applied to several different disorders. Therefore, the umbrella term “epidermal nevus syndromes” now represents a group of distinct disorders that have in common the presence of one of the various types of epidermal nevi. However, there is so far no general agreement how to classify the types of this diverse group of disorders, adding to the confusion within the medical literature. These disorders are quite different from one another and are not “variants” of each other as is sometimes mistakenly stated in the medical literature. In the future, as the genetic molecular basis of these disorders is better understood, the classification may change or expand. This report follows the classification from a review by Happle (J Am Acad Dermatol 2010).Two other terms that have been used to describe ENSs are “organoid nevus syndrome” and “keratinocytic nevus syndrome”. However, it is inappropriate to use these terms to denote a single disorder or interchangeably with epidermal nevus syndromes. Organoid nevus syndrome is a general term that could be applied to at least five different types of ENS. Keratinocytic nevus syndrome is a general term that could be applied to four different types of ENS.NORD has individual reports on specific ENSs including Schimmelpenning syndrome, Proteus syndrome, and CHILD syndrome. | 414 | Epidermal Nevus Syndromes |
nord_414_1 | Symptoms of Epidermal Nevus Syndromes | Epidermal nevus syndromes encompass a wide variety of disorders. The specific symptoms present, severity and prognosis can vary greatly depending on the specific type of ENS and the presence and extent of associated extra-cutaneous symptoms. The onset and progression of these disorders varies greatly as well. Epidermal nevi have also been classified as “hamartomas”, a rather vague and ambiguous term for benign tumor-like malformations that can affect any area of the body. “Hamartomas” are composed of mature cells and tissue normally found in the affected area. There are different types of epidermal nevi based upon their main component. Epidermal nevi are usually present at birth (congenital) and appear as a patch or plaque of overgrown skin. Epidermal nevi often occur on the trunk, limbs, face or scalp. Epidermal nevi can be striking and obvious in appearance or subtle and easy to miss.Generally, epidermal nevi on the head and face are more likely to be associated with malformations of the brain, eyes and cranial bones. Epidermal nevi on the trunk are more likely to be associated with abnormal curvature of the spine, hip malformation and deformities of the arms and legs. The lesions, apart from their appearance, usually do not cause additional symptoms. Individuals with a sebaceous nevus of the head may later develop intralesional tumors such as trichoblastoma or basal cell carcinoma. Recent research, however, suggests that this risk may be overstated in the medical literature. In fact, the risk of life-threatening malignant growth is virtually absent. Hence, there is no need to remove a sebaceous nevus for cancer prophylaxis (avoidance of malignant tumors). SCHIMMELPENNING SYNDROMEThis disorder is characterized by multiple sebaceous nevi and defects affecting the brain, eyes and bones. The skin lesion affecting individuals with Schimmelpenning syndrome is called sebaceous nevus because it predominantly affects the sebaceous glands (small oil-producing glands in the skin). Schimmelpenning syndrome is the most common type of ENS. The sebaceous nevus is present at birth (congenital), although it might not be identified until later during childhood, or even after puberty. The scalp and mid-facial area are most often affected. The arms, legs and trunk may also be affected. Sebaceous nevi are usually salmon or yellowed colored, hairless, smooth patches. Eventually (usually around puberty) they become more pronounced and may appear scaly, warty or thickened. When the scalp is involved, large lesions may be present. These are usually hairless. Sebaceous nevi often occur as isolated findings. However, when they occur with additional extra-cutaneous symptoms, the term Schimmelpenning syndrome is appropriate. In addition to sebaceous nevi, individuals with Schimmelpenning syndrome may have neurological abnormalities including seizures, delays in attaining developmental milestones (developmental delays), intellectual impairment and malformations affecting certain structures of the brain. Ocular abnormalities also occur in Schimmelpenning syndrome and include a partial absence of tissue (coloboma) from the colored portion of the eye (iris) or the membrane lining the back of the eyes (retina), clouding (opacity) of the cornea, crossed eyes (strabismus), defects of the optic nerve and scarring degeneration or detachment of the retina. Some individuals may have a benign, yellowish-white, fatty tumor on the outer portion of the eyeball (epibulbar lipodermoid). Affected individuals also have skeletal malformations including abnormal curvature of the spine, dislocation of the hip, and deformities of the limbs. Craniofacial defects such as an unusually prominent forehead (frontal bossing) may also occur. Additional skeletal malformations may include bone cysts, underdevelopment of the pelvis and incomplete formation of the bony structures including the ankle, foot and bones of the spinal column (vertebrae).Individuals with Schimmelpenning syndrome may also develop vitamin D-resistant rickets, a condition characterized by bowing deformities of the legs, pain in the legs and progressive softening of the bone structure. In children, growth rates may be slow, ultimately resulting in short stature. Affected individuals may be prone to fractures. In the past, the term “epidermal nevus syndrome” was used to describe Schimmelpenning syndrome. Unfortunately, some authors still use these terms interchangeably. Additional terms used to describe this disorder include Schimmelpenning-Feuerstein-Mims syndrome, linear sebaceous nevus sequence, sebaceous nevus syndrome and Jadassohn sebaceous nevus syndrome. PHACOMATOSIS PIGMENTOKERATOTICAThis type of ENS is characterized by the presence of a sebaceous nevus and a condition known as speckled lentiginous nevus of the papular type. (For a description of sebaceous nevus see Schimmelpenning syndrome above.) Speckled lentiginous nevus is characterized by large, light-brown discoloration of the skin, superimposed by multiple darkened (melanocytic) spots (papules). While sebaceous nevus is present at birth, the characteristic papules of speckled lentiginous nevus may not develop until later in life, whereas the café-au-lait background macules showing a checkerboard arrangement tend likewise to be present in the newborn.Individuals with phacomatosis pigmentokeratotica may also develop additional abnormalities, especially neurological and skeletal abnormalities. Neurological abnormalities include seizures, intellectual impairment, muscle weakness, paralysis on one side of the body (hemiparesis), underdevelopment of one side of the boy (hemiatrophy), excessive sweating (hyperhidrosis), and cutaneous dysesthesia, a condition in which touching the skin causing a feeling of unpleasantness. Skeletal abnormalities may include abnormal side-to-side curvature of the spine (scoliosis) and vitamin D-resistant rickets, a condition characterized by bowing deformities of the legs, pain in the legs and progressive softening of the bone structure. In children, growth rates may be slow, ultimately resulting in short stature. Affected individuals may be prone to fractures. Additional findings that have been reported in this disorder include hearing loss in one ear, crossed eyes (strabismus), droopy of the upper eyelid (ptosis) and narrowing of the aorta (aortic stenosis).NEVUS COMEDONICUS SYNDROMENevus comedonicus is a skin lesion composed of closely-set, widened follicular openings that, in principle, belong to a hair follicle but in nevus comedonicus are plugged with keratin, a major structural protein found in the outer layer of skin as well as hair and nails. These lesions are often found on the head, but can also occur on the trunk and limbs. These lesions may be complicated by large cysts containing sebum (oil).In nevus comedonicus syndrome, the characteristic skin lesion occurs with additional symptoms. These symptoms generally occur on the same side of the body (ipsilateral) as the skin lesion. Additional findings may include cataracts, webbing of the fingers or toes (syndactyly), abnormal fixation of the pinky so that it is bent toward the ring finger (clinodactyly), an extra thumb (preaxial polydactyly), abnormal curvature of the spine (scoliosis), and vertebral defects. Neurological abnormalities may also occur such as cognitive deficiencies, abnormal formation of the area of the brain that connects the two cerebral hemispheres (dysgenesis of the corpus callosum), and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant’s age and gender. ANGORA HAIR NEVUS SYNDROME (SCHAUDER SYNDROME)This type of ENS is characterized by an epidermal nevus that is covered by long, soft white hairs. The lesion is arranged in a broad, band-like shape. Angora hair nevus syndrome may be associated with seizures, intellectual impairment, and paralysis of one side of the body (hemiparesis). Distinctive facial features may also occur including abnormal prominence of the forehead (frontal bossing), malformed ears and an abnormally large tongue (macrostomia). Ocular abnormalities may also occur including cataracts, partial absence of tissue (coloboma) from the colored portion of the eye (iris), optic nerve defects and conditions that affect the structure or function of the pupils (ectopic pupils). Angora hair nevus syndrome is also known as Schauder syndrome. BECKER NEVUS SYNDROMEA Becker nevus is characterized by one or more lesions that usually form a checkerboard pattern. A Becker nevus is characterized by overactivity of hair follicles and pigment cells (melanocytes). Affected individuals have a large dark brown patch of skin that has often been reported to involve the shoulder, back or chest. However, this skin lesion can develop anywhere on the body. After puberty, a Becker nevus will darken and in males will show excessive hair growth. Some males with a Becker nevus may exhibit asymmetric growth of the beard. Individuals with Becker nevus syndrome may exhibit underdevelopment of the breast on the same side of the body as the skin lesion (ipsilateral breast hypoplasia). This finding affects both males and females, but is more noticeable in females. Extra (supernumerary) nipples and abnormally sparse hair under the armpit on the affected side of the body may also occur. Individuals with Becker nevus syndrome have skeletal and muscular abnormalities including abnormal curvature of the spine (scoliosis), vertebral defects, fused ribs, uneven growth of the arms and legs, underdevelopment of the teeth and jaws (odontomaxillary hypoplasia) and a sunken chest or an abnormally prominent chest (pectus excavatum and pectus carinatum). Muscular abnormalities may include underdevelopment of the muscles of the shoulder girdle on the affected side of the body. Becker nevus syndrome may also be known as pigmented hairy epidermal nevus syndrome. PROTEUS SYNDROMEThe characteristic finding of Proteus syndrome is overgrowth of various tissues of the body. The cause of the disorder is unknown. Disproportionate, asymmetric overgrowth occurs in a mosaic pattern (i.e., a random “patchy” pattern of affected and unaffected areas). Affected individuals may experience a wide variety of complications that may include progressive skeletal malformations, benign and malignant tumors, malformations of blood vessels (vascular malformations), bullous pulmonary disease, and certain skin lesions such as keratinocytic nevi. In some cases, life-threatening conditions relating to abnormal blood clotting may develop including deep vein thrombosis and pulmonary embolism.A keratinocytic nevus is a linear skin lesion characterized by an overgrowth of keratinocytes, the predominant cell type in the epidermis. It affects approximately 50 percent of individuals with Proteus syndrome and is usually of a soft and velvety texture. Unlike other skin lesions associated with Proteus syndrome, it does not become progressively larger.Additional cutaneous findings associated with Proteus syndrome include telangiectatic nevi (flat, dark red areas of capillary malformation), underdeveloped areas of skin (dermal hypoplasia), benign growths that consist of masses of lymph vessels (lymphangiomas) and lesions that arise from the deeper layers of skin (connective tissue nevi). Connective tissue nevi predominantly affect the palms and soles and cause the skin to become abnormally thickened and firm and the affected areas may develop grooves or furrows that resemble the fissures of the brain (cerebriform).For more information on this disorder, choose “Proteus” as your search term in the Rare Disease Database.TYPE 2 SEGMENTAL COWDEN DISEASECowden disease is part of a group of disorders known as PTEN hamartoma syndromes, a spectrum of disorders caused by mutations of the PTEN gene. These disorders are characterized by multiple hamartomas that can affect various areas of the body. Type 2 segmental Cowden disease refers to a multisystem disorder caused by mutations of the PTEN gene that is also associated with a linear Cowden nevus, a type of keratinocytic nevus. Type 2 segmental Cowden disease is similar to Proteus syndrome and some cases have been misdiagnosed as Proteus syndrome. However, there are several key differences in appearance. Unlike the keratinocytic nevus associated with Proteus syndrome, the skin lesion associated with type 2 segmental Cowden disease is thick with a surface that resembles that of the common wart (papillomatous). Moreover, type 2 segmental Cowden disease is not associated with connective tissue nevi of the palms and soles, but is associated with a kidney disorder known as focal segmental glomerulosclerosis (which does not occur in Proteus syndrome). CHILD SYNDROMECHILD is an acronym for [c]ongenital [h]emidysplasia with [i]chthyosiform nevus and [l]imb [d]efects. The disorder almost exclusively affects women and is present at birth. Symptoms generally affect one side of the body (hemidysplasia); the right side is affected twice as often as the left. Skin abnormalities present as inflamed reddish patches that are covered by large, waxy, yellowish scales. A wide variety of additional findings may occur on the same side of the body as the skin lesions including skeletal, neurological and visceral abnormalities. Skeletal abnormalities may range from mild underdevelopment (hypoplasia) of bones of the hand or feet to complete absence of a limb. Additional skeletal malformations include cleft hand or foot, abnormal curvature of the spine (scoliosis), underdevelopment of half of the face (facial hemihypotrophy), and short stature. Some infants may have a condition called chondrodysplasia punctata that is visible upon x-rays. This condition is characterized by the formation of small, hardened spots of calcium on the growing portion or heads of the long bones (stippled epiphyses). Neurological abnormalities include underdevelopment or absence of one of the two hemispheres of the brain, underdevelopment or absence of certain cranial nerves, paralysis on one side of the body (hemiparesis), decreased sensation to touch or heat, and hearing loss due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineural hearing loss).Visceral abnormalities include cardiovascular defects, underdevelopment or absence of a kidney or unilateral underdevelopment of the lung. For more information, choose “CHILD” as your search term in the Rare Disease Database.GARCIA-HAFNER-HAPPLE SYNDROMEThis form of ENS is characterized by a keratinocytic epidermal nevus that is soft and velvety in texture. Neurological abnormalities including seizures, intellectual impairment, degeneration of brain cells (cortical atrophy) and underdevelopment of the area of the brain that connects the two cerebral hemispheres (corpus callosum) can also occur. Skeletal abnormalities have not been reported in this disorder. Garcia-Hafner-Happle syndrome has only been reported in a handful of cases. It is caused by mutations to the fibroblast growth factor receptor 3 (FGFR) gene and is also called FGFR3 epidermal nevus syndrome. MISCELLANEOUS SYNDROMESThere are several additional disorders that are considered “in limbo”. These syndromes have only been described in a handful of individuals and the underlying molecular basis is unknown. Researchers have yet to determine whether they are distinct types of ENSs or variants of well-defined ENSs. These disorders are sometimes referred to as less well-defined types of ENSs. They include: CLOVE syndrome – an acronym for [c]ongenital [l]ipomatous [o]vergrowth, [v]ascular malformations, and [e]pidermal nevus. CLOVE syndrome is extremely similar to Proteus syndrome and many individuals with this disorder were originally diagnosed with Proteus syndrome. According to the medical literature, the key difference is that overgrowth of toes in CLOVE syndrome is “ballooning”, nonprogressive and proportionate while with Proteus syndrome such overgrowth is distorted, progressive and disproportionate. Some researchers believe that CLOVE syndrome may represent a variant of Proteus syndrome and not a distinct disorder. This question will be answered once the underlying molecular basis of these two disorders is discovered. Nevus trichilemmocysticus syndrome – characterized by multiple cysts, which are derived from the root sheath of the hair follicle (trichilemmal cysts), that occur along with bone lesions. Didymosis aplasticosebacea – the coexistence of a nevus sebaceous along with aplasia cutis congenita, a condition characterized by a lack of skin and hair in certain areas (localized), most often on the scalp. These lesions are usually localized and found close together. SCALP syndrome – an acronym for [s]ebaceous nevus, [c]entral nervous system malformations, [a]plasia cutis congenital, [l]imbal [d]ermoid and [p]igmented nevus. Gobello syndrome – reported in one individual in 2000, Gobello syndrome was associated with an organoid nevus with a velvety surface as well as excessive hairiness (hypertrichosis) and rough, elevated papules (follicular hyperkeratosis). Skeletal abnormalities were also present.Baefverstedt syndrome – Reported in one individual in 1941, Baefverstedt syndrome was associated with abnormal horny growths on the skin in a linear pattern. Neurological symptoms such as intellectual disability and seizures were also noted. The horny growths developed on the face, neck and underarms and became quite prominent. NEVADA syndrome – an acronym for [n]evus [e]pidermicus [v]errucosus with [a]ngio[d]ysplasia and [a]neurysms. | Symptoms of Epidermal Nevus Syndromes. Epidermal nevus syndromes encompass a wide variety of disorders. The specific symptoms present, severity and prognosis can vary greatly depending on the specific type of ENS and the presence and extent of associated extra-cutaneous symptoms. The onset and progression of these disorders varies greatly as well. Epidermal nevi have also been classified as “hamartomas”, a rather vague and ambiguous term for benign tumor-like malformations that can affect any area of the body. “Hamartomas” are composed of mature cells and tissue normally found in the affected area. There are different types of epidermal nevi based upon their main component. Epidermal nevi are usually present at birth (congenital) and appear as a patch or plaque of overgrown skin. Epidermal nevi often occur on the trunk, limbs, face or scalp. Epidermal nevi can be striking and obvious in appearance or subtle and easy to miss.Generally, epidermal nevi on the head and face are more likely to be associated with malformations of the brain, eyes and cranial bones. Epidermal nevi on the trunk are more likely to be associated with abnormal curvature of the spine, hip malformation and deformities of the arms and legs. The lesions, apart from their appearance, usually do not cause additional symptoms. Individuals with a sebaceous nevus of the head may later develop intralesional tumors such as trichoblastoma or basal cell carcinoma. Recent research, however, suggests that this risk may be overstated in the medical literature. In fact, the risk of life-threatening malignant growth is virtually absent. Hence, there is no need to remove a sebaceous nevus for cancer prophylaxis (avoidance of malignant tumors). SCHIMMELPENNING SYNDROMEThis disorder is characterized by multiple sebaceous nevi and defects affecting the brain, eyes and bones. The skin lesion affecting individuals with Schimmelpenning syndrome is called sebaceous nevus because it predominantly affects the sebaceous glands (small oil-producing glands in the skin). Schimmelpenning syndrome is the most common type of ENS. The sebaceous nevus is present at birth (congenital), although it might not be identified until later during childhood, or even after puberty. The scalp and mid-facial area are most often affected. The arms, legs and trunk may also be affected. Sebaceous nevi are usually salmon or yellowed colored, hairless, smooth patches. Eventually (usually around puberty) they become more pronounced and may appear scaly, warty or thickened. When the scalp is involved, large lesions may be present. These are usually hairless. Sebaceous nevi often occur as isolated findings. However, when they occur with additional extra-cutaneous symptoms, the term Schimmelpenning syndrome is appropriate. In addition to sebaceous nevi, individuals with Schimmelpenning syndrome may have neurological abnormalities including seizures, delays in attaining developmental milestones (developmental delays), intellectual impairment and malformations affecting certain structures of the brain. Ocular abnormalities also occur in Schimmelpenning syndrome and include a partial absence of tissue (coloboma) from the colored portion of the eye (iris) or the membrane lining the back of the eyes (retina), clouding (opacity) of the cornea, crossed eyes (strabismus), defects of the optic nerve and scarring degeneration or detachment of the retina. Some individuals may have a benign, yellowish-white, fatty tumor on the outer portion of the eyeball (epibulbar lipodermoid). Affected individuals also have skeletal malformations including abnormal curvature of the spine, dislocation of the hip, and deformities of the limbs. Craniofacial defects such as an unusually prominent forehead (frontal bossing) may also occur. Additional skeletal malformations may include bone cysts, underdevelopment of the pelvis and incomplete formation of the bony structures including the ankle, foot and bones of the spinal column (vertebrae).Individuals with Schimmelpenning syndrome may also develop vitamin D-resistant rickets, a condition characterized by bowing deformities of the legs, pain in the legs and progressive softening of the bone structure. In children, growth rates may be slow, ultimately resulting in short stature. Affected individuals may be prone to fractures. In the past, the term “epidermal nevus syndrome” was used to describe Schimmelpenning syndrome. Unfortunately, some authors still use these terms interchangeably. Additional terms used to describe this disorder include Schimmelpenning-Feuerstein-Mims syndrome, linear sebaceous nevus sequence, sebaceous nevus syndrome and Jadassohn sebaceous nevus syndrome. PHACOMATOSIS PIGMENTOKERATOTICAThis type of ENS is characterized by the presence of a sebaceous nevus and a condition known as speckled lentiginous nevus of the papular type. (For a description of sebaceous nevus see Schimmelpenning syndrome above.) Speckled lentiginous nevus is characterized by large, light-brown discoloration of the skin, superimposed by multiple darkened (melanocytic) spots (papules). While sebaceous nevus is present at birth, the characteristic papules of speckled lentiginous nevus may not develop until later in life, whereas the café-au-lait background macules showing a checkerboard arrangement tend likewise to be present in the newborn.Individuals with phacomatosis pigmentokeratotica may also develop additional abnormalities, especially neurological and skeletal abnormalities. Neurological abnormalities include seizures, intellectual impairment, muscle weakness, paralysis on one side of the body (hemiparesis), underdevelopment of one side of the boy (hemiatrophy), excessive sweating (hyperhidrosis), and cutaneous dysesthesia, a condition in which touching the skin causing a feeling of unpleasantness. Skeletal abnormalities may include abnormal side-to-side curvature of the spine (scoliosis) and vitamin D-resistant rickets, a condition characterized by bowing deformities of the legs, pain in the legs and progressive softening of the bone structure. In children, growth rates may be slow, ultimately resulting in short stature. Affected individuals may be prone to fractures. Additional findings that have been reported in this disorder include hearing loss in one ear, crossed eyes (strabismus), droopy of the upper eyelid (ptosis) and narrowing of the aorta (aortic stenosis).NEVUS COMEDONICUS SYNDROMENevus comedonicus is a skin lesion composed of closely-set, widened follicular openings that, in principle, belong to a hair follicle but in nevus comedonicus are plugged with keratin, a major structural protein found in the outer layer of skin as well as hair and nails. These lesions are often found on the head, but can also occur on the trunk and limbs. These lesions may be complicated by large cysts containing sebum (oil).In nevus comedonicus syndrome, the characteristic skin lesion occurs with additional symptoms. These symptoms generally occur on the same side of the body (ipsilateral) as the skin lesion. Additional findings may include cataracts, webbing of the fingers or toes (syndactyly), abnormal fixation of the pinky so that it is bent toward the ring finger (clinodactyly), an extra thumb (preaxial polydactyly), abnormal curvature of the spine (scoliosis), and vertebral defects. Neurological abnormalities may also occur such as cognitive deficiencies, abnormal formation of the area of the brain that connects the two cerebral hemispheres (dysgenesis of the corpus callosum), and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant’s age and gender. ANGORA HAIR NEVUS SYNDROME (SCHAUDER SYNDROME)This type of ENS is characterized by an epidermal nevus that is covered by long, soft white hairs. The lesion is arranged in a broad, band-like shape. Angora hair nevus syndrome may be associated with seizures, intellectual impairment, and paralysis of one side of the body (hemiparesis). Distinctive facial features may also occur including abnormal prominence of the forehead (frontal bossing), malformed ears and an abnormally large tongue (macrostomia). Ocular abnormalities may also occur including cataracts, partial absence of tissue (coloboma) from the colored portion of the eye (iris), optic nerve defects and conditions that affect the structure or function of the pupils (ectopic pupils). Angora hair nevus syndrome is also known as Schauder syndrome. BECKER NEVUS SYNDROMEA Becker nevus is characterized by one or more lesions that usually form a checkerboard pattern. A Becker nevus is characterized by overactivity of hair follicles and pigment cells (melanocytes). Affected individuals have a large dark brown patch of skin that has often been reported to involve the shoulder, back or chest. However, this skin lesion can develop anywhere on the body. After puberty, a Becker nevus will darken and in males will show excessive hair growth. Some males with a Becker nevus may exhibit asymmetric growth of the beard. Individuals with Becker nevus syndrome may exhibit underdevelopment of the breast on the same side of the body as the skin lesion (ipsilateral breast hypoplasia). This finding affects both males and females, but is more noticeable in females. Extra (supernumerary) nipples and abnormally sparse hair under the armpit on the affected side of the body may also occur. Individuals with Becker nevus syndrome have skeletal and muscular abnormalities including abnormal curvature of the spine (scoliosis), vertebral defects, fused ribs, uneven growth of the arms and legs, underdevelopment of the teeth and jaws (odontomaxillary hypoplasia) and a sunken chest or an abnormally prominent chest (pectus excavatum and pectus carinatum). Muscular abnormalities may include underdevelopment of the muscles of the shoulder girdle on the affected side of the body. Becker nevus syndrome may also be known as pigmented hairy epidermal nevus syndrome. PROTEUS SYNDROMEThe characteristic finding of Proteus syndrome is overgrowth of various tissues of the body. The cause of the disorder is unknown. Disproportionate, asymmetric overgrowth occurs in a mosaic pattern (i.e., a random “patchy” pattern of affected and unaffected areas). Affected individuals may experience a wide variety of complications that may include progressive skeletal malformations, benign and malignant tumors, malformations of blood vessels (vascular malformations), bullous pulmonary disease, and certain skin lesions such as keratinocytic nevi. In some cases, life-threatening conditions relating to abnormal blood clotting may develop including deep vein thrombosis and pulmonary embolism.A keratinocytic nevus is a linear skin lesion characterized by an overgrowth of keratinocytes, the predominant cell type in the epidermis. It affects approximately 50 percent of individuals with Proteus syndrome and is usually of a soft and velvety texture. Unlike other skin lesions associated with Proteus syndrome, it does not become progressively larger.Additional cutaneous findings associated with Proteus syndrome include telangiectatic nevi (flat, dark red areas of capillary malformation), underdeveloped areas of skin (dermal hypoplasia), benign growths that consist of masses of lymph vessels (lymphangiomas) and lesions that arise from the deeper layers of skin (connective tissue nevi). Connective tissue nevi predominantly affect the palms and soles and cause the skin to become abnormally thickened and firm and the affected areas may develop grooves or furrows that resemble the fissures of the brain (cerebriform).For more information on this disorder, choose “Proteus” as your search term in the Rare Disease Database.TYPE 2 SEGMENTAL COWDEN DISEASECowden disease is part of a group of disorders known as PTEN hamartoma syndromes, a spectrum of disorders caused by mutations of the PTEN gene. These disorders are characterized by multiple hamartomas that can affect various areas of the body. Type 2 segmental Cowden disease refers to a multisystem disorder caused by mutations of the PTEN gene that is also associated with a linear Cowden nevus, a type of keratinocytic nevus. Type 2 segmental Cowden disease is similar to Proteus syndrome and some cases have been misdiagnosed as Proteus syndrome. However, there are several key differences in appearance. Unlike the keratinocytic nevus associated with Proteus syndrome, the skin lesion associated with type 2 segmental Cowden disease is thick with a surface that resembles that of the common wart (papillomatous). Moreover, type 2 segmental Cowden disease is not associated with connective tissue nevi of the palms and soles, but is associated with a kidney disorder known as focal segmental glomerulosclerosis (which does not occur in Proteus syndrome). CHILD SYNDROMECHILD is an acronym for [c]ongenital [h]emidysplasia with [i]chthyosiform nevus and [l]imb [d]efects. The disorder almost exclusively affects women and is present at birth. Symptoms generally affect one side of the body (hemidysplasia); the right side is affected twice as often as the left. Skin abnormalities present as inflamed reddish patches that are covered by large, waxy, yellowish scales. A wide variety of additional findings may occur on the same side of the body as the skin lesions including skeletal, neurological and visceral abnormalities. Skeletal abnormalities may range from mild underdevelopment (hypoplasia) of bones of the hand or feet to complete absence of a limb. Additional skeletal malformations include cleft hand or foot, abnormal curvature of the spine (scoliosis), underdevelopment of half of the face (facial hemihypotrophy), and short stature. Some infants may have a condition called chondrodysplasia punctata that is visible upon x-rays. This condition is characterized by the formation of small, hardened spots of calcium on the growing portion or heads of the long bones (stippled epiphyses). Neurological abnormalities include underdevelopment or absence of one of the two hemispheres of the brain, underdevelopment or absence of certain cranial nerves, paralysis on one side of the body (hemiparesis), decreased sensation to touch or heat, and hearing loss due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineural hearing loss).Visceral abnormalities include cardiovascular defects, underdevelopment or absence of a kidney or unilateral underdevelopment of the lung. For more information, choose “CHILD” as your search term in the Rare Disease Database.GARCIA-HAFNER-HAPPLE SYNDROMEThis form of ENS is characterized by a keratinocytic epidermal nevus that is soft and velvety in texture. Neurological abnormalities including seizures, intellectual impairment, degeneration of brain cells (cortical atrophy) and underdevelopment of the area of the brain that connects the two cerebral hemispheres (corpus callosum) can also occur. Skeletal abnormalities have not been reported in this disorder. Garcia-Hafner-Happle syndrome has only been reported in a handful of cases. It is caused by mutations to the fibroblast growth factor receptor 3 (FGFR) gene and is also called FGFR3 epidermal nevus syndrome. MISCELLANEOUS SYNDROMESThere are several additional disorders that are considered “in limbo”. These syndromes have only been described in a handful of individuals and the underlying molecular basis is unknown. Researchers have yet to determine whether they are distinct types of ENSs or variants of well-defined ENSs. These disorders are sometimes referred to as less well-defined types of ENSs. They include: CLOVE syndrome – an acronym for [c]ongenital [l]ipomatous [o]vergrowth, [v]ascular malformations, and [e]pidermal nevus. CLOVE syndrome is extremely similar to Proteus syndrome and many individuals with this disorder were originally diagnosed with Proteus syndrome. According to the medical literature, the key difference is that overgrowth of toes in CLOVE syndrome is “ballooning”, nonprogressive and proportionate while with Proteus syndrome such overgrowth is distorted, progressive and disproportionate. Some researchers believe that CLOVE syndrome may represent a variant of Proteus syndrome and not a distinct disorder. This question will be answered once the underlying molecular basis of these two disorders is discovered. Nevus trichilemmocysticus syndrome – characterized by multiple cysts, which are derived from the root sheath of the hair follicle (trichilemmal cysts), that occur along with bone lesions. Didymosis aplasticosebacea – the coexistence of a nevus sebaceous along with aplasia cutis congenita, a condition characterized by a lack of skin and hair in certain areas (localized), most often on the scalp. These lesions are usually localized and found close together. SCALP syndrome – an acronym for [s]ebaceous nevus, [c]entral nervous system malformations, [a]plasia cutis congenital, [l]imbal [d]ermoid and [p]igmented nevus. Gobello syndrome – reported in one individual in 2000, Gobello syndrome was associated with an organoid nevus with a velvety surface as well as excessive hairiness (hypertrichosis) and rough, elevated papules (follicular hyperkeratosis). Skeletal abnormalities were also present.Baefverstedt syndrome – Reported in one individual in 1941, Baefverstedt syndrome was associated with abnormal horny growths on the skin in a linear pattern. Neurological symptoms such as intellectual disability and seizures were also noted. The horny growths developed on the face, neck and underarms and became quite prominent. NEVADA syndrome – an acronym for [n]evus [e]pidermicus [v]errucosus with [a]ngio[d]ysplasia and [a]neurysms. | 414 | Epidermal Nevus Syndromes |
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