反常性痤疮是一种慢性化脓性毛囊炎症,以反复发生疼痛性皮肤脓肿、窦道及瘢痕形成为特征。常发生于青春期后,可呈家族性或散发。反常性痤疮的发病机制目前尚未阐明,可能是由遗传因素、免疫因素、吸烟、肥胖、雄激素等多种因素共同作用的结果。部分家族性反常性痤疮的发病是编码吖一分泌酶不同亚单位的基因发生功能缺失突变引起的。
Acne inversa (AI) is a chronic purulent folliculitis characterized by recurrent painful skin abscesses, draining sinuses, and disfiguring scars. AI typically occurs after puberty and can be either familial or sporadic. The pathogenesis of AI remains unanswered, and is considered to be associated with genetic predisposition, aberrant immunity, smoking, obesity and androgens. Recently, it has been evidenced that loss- of-function mutations in genes encoding y-secretase components contribute to the development of AI in some patients.