Parana硬皮综合征

定义 英文原文（暂无中文）

A rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.

别名

硬皮综合征，Parana型

基本事实

发病年龄

婴儿期

患病率

<1 / 1 000 000

临床表型 12

外部标识与链接