病例一是一個6歲的小女核,她出生時僅有少量的頭髮和眉毛,隨著時間的經過已完全的掉光。此外,她有有的指甲發育不良,掌蹠皮膚也有角化的症狀。她的牙齒和排汗功能則是正常。據此診斷為有汗性外胚層發育異常(Clouston徵候群)。病例二是一個5歲的小男孩,他從出生時就只有稀疏的頭髮和眉毛,同時還合併有大齒間距的錐狀牙齒以及無汗的症狀。另外,臉部則有典型的鞍狀鼻、唇外翻、前額凸起、鄿骨內凹和眼眶色素沈著。不過他的指甲是正常的。這個病人因此被診斷為無汗性外胚層發育異常。這兩個病例均無家族史,為兩個偶發的病例。
Case one is a 6-year-old girl. She had sparse scalp hair and eyebrows at birth, which totally lost over time. Besides, all her 20 nails wre dystrophic with palmoplantar keratoderma. Her teeth and sweating function were normal. Based on the above-mentioned findings, hidrotic ectodermal dyspla- sia (Clouston syndrome) was diagnosed. Case two is a 5-year-old boy. He suffered from scanty scalp hair and eyebrows since birth with widely spaced conical teeth and anhidrosis. In addition, a character- istic face with saddle nose, everted lips, relative frontal bossing, concave midface, and periorbital hyperpigmentatin was noted. However, his nails were normal. The case was therefore diagnosed as anhidrotic ectodermal dysplasia. Both cases do not have relevant family history.
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