毛囊角化病发病机制的研究进展

Pathogenesis of Darier＇s disease

毛囊角化病是一种少见的常染色体不完全显性遗传性皮肤病，主要表现为皮脂溢出部位的毛囊性、脂溢性坚实丘疹，常融合成片形成疣状斑块，上覆油腻性痂皮，可局限分布也可泛发全身。组织病理变化以角化不良伴棘层松解为特征。概述毛囊角化病相关发病机制的进展，目前认为，主要是位于12q23-q24．1上的ATP2A2基因突变所致，可能还有环境因素、局部免疫失调、钙离子信号传导、规范性瞬时受体电位1和细胞凋亡等因素相关参与发病。

Diraer＇ s disease is an uncommon autosomal dominant skin disease with incomplete penetrance. It is mainly manifested as locally or generally distributed solid seborrheic follicular papules in seborrheic areas, which are often confluent to form verrueons plaques covered with greasy crusts. Characteristic pathological changes include dyskeratosis and acantholysis. At present, it is considered to be caused by ATP2A2 gene mutation in 12q23-24.1. Further more, multiple other factors, including environment, local immune dysfunction, transient receptor potential channel 1 （TRPC1） receptor potential, cell apoptosis, and so on, are also likely to be implicated in its pathogenesis. This article outlines the pathogenesis of Diraer＇ s disease.