Hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia was first described by Thurnam in 1848. It is a rare, X-linked, recessive disorder characterized by anhidrosis or hypohidrosis, hypotrichosis, dental hypoplasia and characteristic facial features. Herein, we report a typical case of hypohidrotic ectodermal dysplasia. A 20-year-old male presented with the above symptoms at birth. When a family history was taken, it was discovered that his uncle (mother's brother) had the same characteristic facial features and hypotrichosis.
Wang
H C
HC
Department of Dermatology, Taichung Veterans General Hospital, Taiwan, ROC.
Chen
C C
CC
Wang
W J
WJ
Ho
W L
WL
D000328:Adult; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male