Ectodermal dysplasia is a hereditary disorder characterised by developmental dystrophies of ectodermal derivatives. For language access assistance, contact the ncats public information officer. Ectodermal dysplasia ed is a genetic disorder that has congenital birth defects of two or more ectodermal structures. The christsiemenstouraine syndrome cst syndrome is the rare an or hypohidrotic form of the ectodermal dysplasia. The christsiemenstouraine syndrome cst syndrome is the rare an or hypohidrotic form of the ectodermal. Hypohidrotic ectodermal dysplasia, also known as christ siemens touraine syndrome, was first described by wedderbun in 1838. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Pdf the ectodermal dysplasias are a large and complex group of diseases. The christ siemens touraine syndrome cst syndrome is the rare an or hypohidrotic form of the ectodermal dysplasia. Diagnosis is usually by clinical observation, often with the assistance of family medical histories so that it. The anhidtrotic form caracterise the christ siemens touraine s syndrome. Christ siemens touraine syndrome congenitally defective or absent sweat glands, smooth, finely wrinkled skin, sunken nose, malformed and missing teeth, sparse fragile hair, and associated with deformed nails, absent breast tissue, mental retardation, or syndactyly. Click on the link to view a sample search on this topic.
Christsiemenstouraine syndrome congenitally defective or absent sweat glands, smooth, finely wrinkled skin, sunken nose, malformed and missing teeth, sparse fragile hair, and associated with deformed nails, absent breast tissue, mental retardation, or syndactyly. Report of 3 familial cases suggestive of xlinked inheritance. Christsiemenstouraine syndrome hypohidrotic ectodermal dysplasia hed is a. Ectodermal dysplasia ed is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures 570 more than 150 different syndromes have been identified. It was first described in 1848 by thurnam 7 and later by darwin 8. This rare disorder, also known as christ siemens touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. It was first described in the medical literature in 1987 by ritscher and schinzel, for whom the disorder is sometimes named. Anhidrotic ectodermal dysplasia is the most common type of disease. Most do well with simple measures such as wet clothes. Pubmed is a searchable database of medical literature and lists journal articles that discuss xlinked hypohidrotic ectodermal dysplasia. Despite some of the syndromes having different genetic causes, the symptoms are sometimes very similar.
Xlinked hypohidrotic ectodermal dysplasia genetic and rare. Christsiemenstouraine syndrome also known as anhidrotic ectodermal dysplasia. This rare disorder, also known as christsiemenstouraine syndrome. Christ siemens touraine cst is a rare hereditary disorder of xlinked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. Hypohidrotic ectodermal dysplasia, also known as christsiemenstouraine syndrome, was first described by wedderbun in 1838. Christsiemenstouraine syndrome is a form of anhidrotic ectodermal dysplasia ed characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Adm estudinatil 10 1 by asociacion dental mexicana issuu. Josef christ 18711948, a german dentist and physician from wiesbaden, who was the first physician to identify the condition, hermann werner siemens 18911969, a pioneering german dermatologist from charlottenburg, who clearly identified its pathological characteristics in the early 1930s, and. The eponym christsiemenstouraine syndrome was named after its discoverers. Christsiemenstouraine syndrome definition of christ. In 19, christ characterized it as a congenital ectodermal defect, siemens confirmed the xlinked nature of inheritance in 1921 and in 1936, and touraine.
Caracterizado por hipohidrosis,hipotricosis e hipodoncia. Christsiemenstouraine syndrome with cleft palate, absent nipples. Sindrome di christsiemenstouraine sindrome di christsiemenstouraine malattia ereditaria caratterizzata da assenza di sudorazione, scarsita di peli e capelli, opacita della cornea, assenza congenita dei denti e ritardo mentale il termine tecnico e displasia ectodermica anidrotica. Christ siemens touraine syndrome also known as anhidrotic ectodermal dysplasia.
Christsiemenstouraine syndrome with cleft palate, absent. Pubmed is a searchable database of medical literature and lists journal articles that discuss x. The ectodermal dysplasias form an heterogeneous group of rare and complex genetic diseases with diffe rent ectodermal derivates abnormalities. Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures. National foundation for ectodermal dysplasias genetic. This rare disorder, also known as christsiemenstouraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. Xlinked hypohidrotic ectodermal dysplasia genetic and. Sorry, we are unable to provide the full text but you may find it at the following locations. National foundation for ectodermal dysplasias genetic and. Ectodermal dysplasia is divided into two types based on the number and function of sweat glands. Marche des maladies rares alliance maladies rares december julho 20142009.
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