A Case of Hypohidrotic Ectodermal Dysplasia.
- Author:
Soo Hong KIM
1
;
Sang Jin PARK
;
Kyung Ho PARK
;
Jun Mo YANG
;
Eil Soo LEE
Author Information
1. Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. eslee@smc.samsung.co.kr
- Publication Type:Case Report
- Keywords:
hypohidrotic ectodermal dysplasia
- MeSH:
Biopsy;
Ear;
Eccrine Glands;
Ectodermal Dysplasia 1, Anhidrotic*;
Eyebrows;
Hair;
Humans;
Hypohidrosis;
Lip;
Parturition;
Pedigree;
Scalp;
Skin;
Sweat Glands;
Tooth;
Young Adult
- From:Korean Journal of Dermatology
2001;39(8):955-958
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Hypohidrotic ectodermal dysplasia is a rare X-linked recessive disorder. It is characterized by the absence or hypoplasia of hair, teeth and sweat glands and by the characteristic facial features. A 20-year-old man presented with hypohidrosis and dry skin since birth. The skin was dry and his face had the characteristic appearance with prominent supraorbital ridges, a wide nasal bridge, thick everted lips and bat-like ears. His scalp and pubic hairs were sparse and eyebrows were absent. His family showed a typical pedigree of X-linked recessive trait. A skin biopsy from the left palm revealed no eccrine gland structures. Herein we report a typical case of hypohidrotic ectodermal dysplasia with a brief review.
