Wang H C, Chen C C, Wang W J, Ho W L
Department of Dermatology, Taichung Veterans General Hospital, Taiwan, ROC.
Zhonghua Yi Xue Za Zhi (Taipei). 2000 Mar;63(3):230-3.
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.
少汗型外胚层发育不良于1848年由瑟南首次描述。它是一种罕见的X连锁隐性疾病，其特征为无汗或少汗、毛发稀少、牙齿发育不全以及特征性面部特征。在此，我们报告一例典型的少汗型外胚层发育不良病例。一名20岁男性出生时即出现上述症状。在询问家族病史时，发现他的舅舅（母亲的兄弟）有相同的特征性面部特征和毛发稀少症状。
