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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Case for diagnosis
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Although many ectodermal dysplasias 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. A case of a young adult male affected with HED who is referred to the Otolaryngology Departament with a history of chronic pharyngitis and ozena, is presented and the literature reviewed.
Prognosis The life-span for patients is normal. Palmoplantar hyperkeratosis is not a constant finding. Clouston syndrome is caused by mutations in the GJB6 gene 13q12encoding the gap junction ectodermcia connexin 30 Cx Disease penetrance is complete, but expression is quite variable even between affected ddisplasia from the same family.
Detailed information Professionals Summary information Russianpdf. Differential diagnosis The differential diagnosis should include pachyonychia congenita and other forms of ectodermal dysplasia see these terms. Persistent nasal crusting due to hypohidrotic ectodermal dysplasia.
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Etiology Over 53 genes and 3 chromosome regions are responsible for the majority of ectodermal dysplasias as different phenotypes may result from mutations in a single gene. Subscribe to our Newsletter.
The exact prevalence is unknown and the syndrome is likely to be underdiagnosed. The nails are thickened, slow growing, brittle, often hyperconvex and discoloured with striation. The term ”ectodermal dysplasia” defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures i.
Hair involvement manifests at birth or later during infancy or childhood, and ranges from total to partial, often progressive, alopecia.
Health care resources for this disease Expert centres Diagnostic tests 28 Patient organisations 25 Orphan drug s 0. This item has received. An Esp Pediatr, 56pp. In HED mainly the ectodermal structures are involved such, as epidermis and its anexes hair and nailsalthough nonectodermal tissue may also become involved.
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Disease definition Clouston syndrome or hidrotic ectodermal dysplasia is characterised ectofermica the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. For all other comments, please send your remarks via contact us. Otolaryngologicalmanifestations are related to hypoplasia of the mucous glands of the upper aerodigestive tract, as chronic infections, like rhinitis, pharyngitis, bronchitis and otitis, and also displasiq, dysphagia, anodontia and, ozena, among others.
Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea. SRJ is a prestige metric based on the idea that not all citations are the same.
Only comments written in English can be processed. Health care resources for this displawia Expert centres Diagnostic tests Patient organisations 60 Orphan drug s 2.
Over 53 genes and 3 chromosome regions are responsible for the majority of ectodermal dysplasias as different phenotypes may result from mutations in a single gene. Diagnostic ectodremica Diagnosis may be suspected xisplasia the basis of the clinical triad of nail dystrophy, hypotrichosis and hyperkeratosis of the palms and soles. The teeth are usually unaffected and sweating is normal. Clouston syndrome or hidrotic ectodermal dysplasia is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
Hospital Universitario Virgen Macarena. The disease was first described in the French-Canadian population in which it is associated with a founder effectbut has since been identified in several other ethnic groups. CiteScore measures average citations received per document published.
Orphanet: Displasia ectodermica idrotica
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Previous article Next article. Additional reported features include micronychia, onycholysis and recurrent paronychial infections leading to nail loss. Summary and related texts.
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