Giraud F, Mattei J F, Rolland M, Ghiglione C, Pommier de Sante P, Sudan N
Arch Fr Pediatr. 1977 Dec;34(10):982-93.
One familial case of ectodermal dysplasia of the Clouston's type is reported. The clinical picture consisted of hypotrichosis and dysonychia with normal sweating. The disease follows dominant autosomal transmission. Histologically, keratin was slightly abnormal. The biochemical study of keratin of hair and nails showed diminished cysteine.
报告了1例克劳斯顿型外胚层发育不良的家族病例。临床表现为毛发稀少、甲发育异常,出汗正常。该病遵循常染色体显性遗传。组织学上,角蛋白略有异常。对头发和指甲角蛋白的生化研究显示半胱氨酸减少。