营养不良大疱性表皮松解症

定义 英文原文（暂无中文）

A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB.

别名

营养不良性大疱性表皮松解症

基本事实

遗传方式

常染色体显性、常染色体隐性

发病年龄

婴儿期、新生儿期

患病率

1-9 / 1 000 000（Europe）

相关基因 1来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

外部标识与链接