鱼鳞病-毛发稀少综合征

定义 英文原文（暂无中文）

Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.

别名

鱼鳞病-毛囊性皮肤萎缩-毛发稀少症-少汗症综合征

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

相关基因 1

临床表型 2

外部标识与链接