[Hidrotic ectodermal dysplasia].
This paper reports a family with typical features of hidrotic ectodermal dysplasia (h.e.d.). Although some members of the family showed phenotypical similarities to anhidrotic ectodermal dysplasia, there is no doubt about the classification of this disorder into hidrotic ectodermal dysplasia because of its manifest symptomatology (hypo- and dystrichosis deformity of nails, autosomal-dominant heredity, normal sweating). This suggests that the phenotypical similarities are obvious and important findings of h.e.d.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001763:Blepharoptosis / Q000150:complications; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D005838:Genotype; D006197:Hair / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009262:Nails / Q000473:pathology; D009264:Nails, Malformed / Q000150:complications; D009506:Nevus / Q000150:complications; D010375:Pedigree; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications; D012886:Skull / Q000002:abnormalities; D013546:Sweating
Ein Beitrag zur hidrotischen ektodermalen Dysplasie