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.
|Published (Last):||1 September 2010|
|PDF File Size:||4.22 Mb|
|ePub File Size:||10.17 Mb|
|Price:||Free* [*Free Regsitration Required]|
Summary and related texts. April Pages Teeth diplasia slow-growing and defective in number i. An Esp Pediatr, 56pp. Diagnostic methods The present classification of ectodermal dysplasia syndrome is based on clinical features although a genetic classification, just as significant, has ectoderkica proposed on the basis of gene function.
Etiology Clouston syndrome is caused by mutations in the GJB6 gene 13q12encoding the gap junction protein connexin 30 Cx Clouston syndrome is transmitted as an autosomal dominant trait. Check this box if you wish to receive a copy of your message. Genetic counseling Clouston syndrome is transmitted as an autosomal dominant trait. Specialised Social Services Eurordis directory.
Si continua navegando, consideramos que acepta su uso. Print Send to a friend Export reference Mendeley Statistics. Clouston syndrome or hidrotic ectodermal dysplasia is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
The diagnosis can be confirmed by molecular analysis of the GJB6 gene. Hair involvement manifests at birth or later during infancy or childhood, and ranges from total to partial, often progressive, alopecia. 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 epistaxis, dysphagia, anodontia and, ozena, among others.
Int J Pediatr Otorhinolaryngol, 8pp. SNIP measures contextual displasja impact by wighting citations based on the total number of citations in a subject field. Eccrine glands may be reduced in number or totally absent leading to hypohidrosis and anhidrosis, respectively.
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. 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. Full text is only aviable in PDF. The documents contained in this web site are presented for information purposes only.
NeonatalInfancy ICD For all other comments, please send your remarks via ectocermica us.
Manifestaciones ORL de la displasia ectodérmica hipohidrótica | Acta Otorrinolaringológica Española
displasua SRJ is a prestige metric based on the idea that not all citations are the same. The exact prevalence is unknown and the syndrome is likely to be underdiagnosed. Se continuar a navegar, consideramos que aceita o seu uso. Hospital Universitario Virgen Macarena. The differential diagnosis should include pachyonychia congenita and other forms of ectodermal dysplasia see these terms.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Disease penetrance is complete, but expression is quite variable even between affected individuals from the same family.
The nails are thickened, slow growing, brittle, often hyperconvex and discoloured with striation. 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.
There was a problem providing the content you requested
Hair is often sparse i. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The documents contained in this web site are presented for information purposes only.
When present, it usually begins in childhood and tends displaska worsen with age; some patients also develop hyperkeratosis and hyperpigmentation over the dispkasia and bony prominences. 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. J Laryngol Otol,pp.
Differential diagnosis The differential diagnosis should include pachyonychia congenita and other forms of ectodermal dysplasia see these terms. Neurofibromatosis tipo ii y sus manifestaciones en cabeza y Diagnosis may be suspected on the basis of the clinical triad of nail dystrophy, hypotrichosis and hyperkeratosis of the palms and soles.
To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior. Other search option s Alphabetical list.
Ozena as presenting symptom of a rare and severe genetic disease: Health care resources for this disease Expert centres Diagnostic tests 28 Patient organisations 25 Orphan drug s 0. Check this box if you wish to receive a copy of your message. Detailed information Professionals Clinical genetics review English Clouston syndrome is caused by mutations in the GJB6 gene 13q12encoding the gap junction protein connexin 30 Cx 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.
SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. Clinical description Nail abnormalities are the most consistent feature and frequently manifest at birth or in early infancy. Clinical description In ectodermal dysplasias, the skin usually appears dry with superficial scaling and proneness to dermatitis. Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea.
Eyebrows and eyelashes are also frequently sparse and axillary, pubic and body hair can be affected. Summary and related texts.