Sybert V P
Department of Pediatrics (Medical Genetics), University of Washington School of Medicine, Seattle.
Pediatr Dermatol. 1989 Jun;6(2):76-81. doi: 10.1111/j.1525-1470.1989.tb01002.x.
Hypohidrotic ectodermal dysplasia (HED) is a well-described, X-linked recessive disorder characterized by hypohidrosis, hypodontia, and hypotrichosis in males. Reports of similarly affected females have suggested autosomal recessive inheritance in some families. The evidence for two clinically identical but genetically distinct disorders is not convincing, however. In two families with X-linked recessive inheritance of HED, the condition was severe in females. A critical review of previously reported cases of presumed autosomal recessive HED suggests that an autosomal recessive form of the condition identical to the X-linked HED may not exist. All sporadic instances of females with classic HED should be considered to be X-linked recessive, and counseling for X-linked recessive inheritance as well as autosomal recessive inheritance should be given.
少汗型外胚层发育不良（HED）是一种已被充分描述的X连锁隐性疾病，其特征为男性患者出现少汗、牙齿发育不全和毛发稀少。关于女性患者有类似表现的报道表明，在一些家族中存在常染色体隐性遗传。然而，关于两种临床症状相同但遗传方式不同的疾病的证据并不确凿。在两个具有X连锁隐性遗传的HED家族中，女性患者的病情严重。对先前报道的疑似常染色体隐性HED病例进行的严格审查表明，可能并不存在与X连锁HED相同的常染色体隐性形式的该疾病。所有散发的具有典型HED症状的女性病例都应被视为X连锁隐性遗传，并应提供关于X连锁隐性遗传以及常染色体隐性遗传的咨询服务。
