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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Health care resources for this disease Expert centres Diagnostic tests Patient organisations 60 Orphan drug s 2.

For all other comments, please send your remarks via contact us. 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 fisplasia modified structures i.

Nail abnormalities are the most consistent feature and frequently manifest at birth or in early infancy. Clinical description Nail abnormalities are the most consistent feature and frequently manifest at birth or in early infancy. Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea.

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Case for diagnosis

Hair involvement manifests at birth or later during infancy or childhood, and ranges from total to partial, often progressive, ectoddrmica. Two cases in which the skin, the hair and teeth were very imperfectly developed. Diagnostic methods Diagnosis may be suspected on the basis of the clinical triad of nail dystrophy, hypotrichosis and hyperkeratosis of the palms and soles.


An Esp Pediatr, 56pp. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

SJR uses a similar algorithm as the Google page rank; it ecfodermica a quantitative and qualitative measure of the journal’s impact. The documents contained in this web site are presented for information purposes only. The exact prevalence is unknown and the syndrome is likely to be underdiagnosed.

Clinical description In ectodermal dysplasias, the skin usually appears dry with superficial scaling and proneness to dermatitis. Si continua navegando, consideramos que acepta su uso.

Hair is often sparse i. Summary Epidemiology 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.

Orphanet: Displasia ectodermica sindr mica

Hypohidrotic Ectodermal Dysplasia HED is a rare recesive genetic 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.

Additional reported features include micronychia, onycholysis and recurrent paronychial infections leading to nail loss.

NeonatalInfancy ICD 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. Laryngoscope,pp. Clouston syndrome is transmitted as an autosomal dominant trait. Specialised Social Services Eurordis directory.


Etiology Clouston syndrome is caused by mutations in the Ectodermicx gene 13q12encoding the gap junction protein connexin 30 Cx Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. SRJ is a prestige metric based on the idea that not all citations are the same.

Hypoplastic breast and nipples and stenosis or agenesis of the lachrymal ducts are further manifestations of sweat gland involvement. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Residual scalp hair is slow growing, sparse, fine and brittle.

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Continuing navigation will be considered as acceptance of this use. The material is in no way intended dctodermica replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. J Laryngol Otol,pp. Management and treatment At present there is no treatment for the disease and management is purely supportive.