少汗性外胚层发育不良(HED)是一种罕见的X连锁疾病,其表型包括头发稀少,全身缺少汗毛,汗腺分泌减少,无牙或少牙和圆锥形牙齿(第1～3)。该病常常有特异的面容:前颌突出,鼻梁扁平,嘴唇突起、眶周皱纹及色素沉着。皮下脂肪减少或呼吸道和胃肠道粘膜腺体缺乏。该病在1848年首先由Thurnum提出,在十九世纪又由Darwin描述过,在1921年Thadani把该病归类于X染色体疾病,后来又报道女性基因携带者能表现疾病的体征。当时对发现该病的重要意义没有评价,一直 Little sweaty ectodermatosis (HED) is a rare X-linked disease with a phenotype that includes hair loss, generalized absence of hairs, reduced secretion of sweat glands, no teeth or fewer teeth and conical teeth (sections 1-3). The disease often has a specific face: protruding forehead, flat nose, lips, periorbital wrinkles and pigmentation. Subcutaneous fat reduction or lack of respiratory and gastrointestinal mucosal glands. The disease was first proposed by Thurnum in 1848 and again by Darwin in the 19th century. Thadani classified the disease as X-chromosome disease in 1921 and later reported that female gene carriers showed signs of the disease. At that time there was no evaluation of the significance of the disease has been found