Hohl D
Laboratoire de Biologie cutanée, CHUV, Lausanne (Suisse)
Ann Dermatol Venereol. 1995;122(4):162-6.
The recent identification of keratin mutations as a cause of hereditary disorders of keratinization stresses the importance of an intact cytoskeleton of keratinocytes. Four disorders have reported to be caused by keratin mutations so far: epidermolysis bullosa simplex, bullous congenital ichthyosiform erythroderma, ichthyosis bullosa and epidermolytic palmoplantar hyperkeratosis. Molecular genetic diagnosis of keratin disorders is being introduced into the clinical routine and prenatal diagnosis is possible after 10 weeks of gestation.
最近，角蛋白突变被确定为角化遗传性疾病的一个病因，这凸显了角质形成细胞完整细胞骨架的重要性。迄今为止，已有四种疾病被报道是由角蛋白突变引起的：单纯性大疱性表皮松解症、大疱性先天性鱼鳞病样红皮病、大疱性鱼鳞病和表皮松解性掌跖角化病。角蛋白疾病的分子遗传学诊断正在被引入临床常规操作中，妊娠10周后即可进行产前诊断。
