表现有皮肤脆性增加的遗传性疾病

Inherited Diseases with Skin Fragility

皮肤脆性增加是指皮肤由于各种原因导致抵御外界机械应力的能力下降,在极其微小的机械创伤下,出现糜烂、水疱、大疱、大面积皮肤剥脱、慢性伤口、瘢痕、结痂、皮肤萎缩等异常表现,常见于各类皮肤结构蛋白突变所导致的遗传性皮肤病。近年多项研究显示影响皮肤结构和功能的其他非结构蛋白突变也可导致皮肤脆性增加。本文对皮肤抵抗机械应力的重要结构、皮肤脆性相关遗传性疾病表型及发病机制研究进展进行综述。

Skin fragility is defined as diminished resistance of the skin to external mechanical forces due to various causes.It manifests as the propensity to develop erosions,blisters,large area of skin denudation,chronic wounds,scars,crusts and skin atrophy after minimal mechanical trauma.Skin fragility is a common feature of genodermatosis caused by mutations in various types of skin structural proteins.In recent years,a number of studies have shown that non-structural protein mutations that affect skin structure and function can also lead to skin fragility.In this paper,the vital structure for maintaining mechanical integrity of skin,phenotypes and pathogenesis of inherited diseases with skin fragility have been reviewed.