Asociación Española de Afectados por Displasia Ectodérmica (AADE). C/ Poeta Andrés Bolarín, º Dcha Murcia, España Telephone: Request PDF on ResearchGate | On May 1, , Francisco Cammarata-Scalisi and others published Displasia ectodérmica hipohidrótica. Bajo el término de displasia ectodérmica se agrupa una gran variedad de cuadros clínicos que comparten unos rasgos comunes como la afectación de uno o.
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In ectodermal dysplasias, the skin usually appears dry with superficial scaling and proneness to dermatitis. Health care resources for this disease Expert centres Diagnostic tests 28 Patient organisations 25 Orphan drug s 0. Nails manifest a wide range of features, comprising but not limited to dystrophic, thickened, and absent nails. Diagnostic methods Diagnosis may be suspected on the basis of the clinical triad of nail dystrophy, hypotrichosis and hyperkeratosis of the palms and soles.
In HED mainly the ectodermal structures are involved such, as epidermis and its anexes hair and nailsalthough nonectodermal tissue may also become involved.
Se continuar a navegar, consideramos que aceita o seu uso. The disease was first described in the French-Canadian population in which it is ectoderica with a founder effectbut has since been identified in several other ethnic groups.
Clinical description In ectodermal dysplasias, the skin usually appears dry with superficial scaling and proneness to dermatitis. Additional information Further information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 6.
For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Hypohidrotic Ectodermal Dysplasia HED is a rare recesive eectodermica disease linked to chromosome X whose main characteristic is the reduction of sweat glands, leading to a deficient sweating and an increase in body temperature. Summary and related texts. Residual scalp hair is slow growing, sparse, fine and brittle.
Etiology Clouston syndrome is caused by mutations in the GJB6 gene 13q12encoding the gap junction protein connexin 30 Cx Over dsiplasia genes and 3 chromosome regions are responsible for the majority of ectodermal dysplasias as different phenotypes may result from mutations in a single gene. Summary Epidemiology The disease was first described in the French-Canadian diplasia in which it is associated with a founder effectbut has since been identified in several other ethnic groups.
The present classification of ectodermal dysplasia syndrome is based on clinical features although a genetic classification, just as significant, has been proposed on the basis of gene function. Although many ectodermal ecctodermica are disorders with manifestations limited to the skin, hair, teeth, nails and sweat glands, multiple features of ectodermal dysplasia are accompanying signs of many syndromic conditions with systemic involvement.
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 60 Orphan drug s 2. Other search option s Alphabetical list.
Detailed information Professionals Summary information Russianpdf. Hair is often sparse i. Previous article Next article. Persistent nasal crusting due to hypohidrotic ectodermal dysplasia.
Orphanet: Displasia ectodermica idrotica
Summary and related texts. You can change the settings or obtain more information by clicking here. Differential diagnosis The differential diagnosis should include pachyonychia congenita and other forms of ectodermal dysplasia see these terms. Additional information Further information on this disease Classification s 3 Gene s 88 Clinical signs and symptoms Other website s xisplasia.
Eccrine glands may be reduced in number or totally absent leading to hypohidrosis and anhidrosis, respectively. When present, it usually begins in childhood and tends to worsen with age; some patients also develop hyperkeratosis and hyperpigmentation over the joints and bony prominences.
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NeonatalInfancy ICD Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Disease definition Clouston syndrome or hidrotic ectodermal dysplasia is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
Si continua ectldermica, consideramos que acepta su uso. Hypoplastic breast and nipples and stenosis or agenesis of the lachrymal ducts are further manifestations of sweat gland involvement.