1 Division of Dermatology, McGill University Health Centre, Montreal, QC, Canada.
2 Division of Dermatology, University of Toronto, Women's College Hospital, ON, Canada.
J Cutan Med Surg. 2019 Sep/Oct;23(5):519-527. doi: 10.1177/1203475419852049. Epub 2019 Jun 6.
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disorder. A genetic component in the pathogenesis is highly likely considering that ~30% to 40% of patients with HS report a family history of the disease. The genetic mutations related to HS that have been reported to date suggest HS can be inherited as a monogenic trait because of a defect in either the signaling pathway or inflammasome function, or as a polygenic disorder resulting from defects in genes regulating epidermal proliferation, ceramide production, or in immune system function. This review provides a summary of genetic mutations reported in patients diagnosed with HS and discusses the mechanisms by which these genes are involved in its pathogenesis.
化脓性汗腺炎(HS)是一种慢性炎症性皮肤病。考虑到约 30%至 40%的 HS 患者报告有该病的家族史,发病机制中极有可能存在遗传因素。迄今为止报道的与 HS 相关的基因突变表明,HS 可以作为一种单基因性状遗传,因为信号通路或炎性小体功能的缺陷,或作为一种多基因疾病,由调节表皮增殖、神经酰胺产生或免疫系统功能的基因缺陷引起。本综述总结了诊断为 HS 的患者的基因突变,并讨论了这些基因参与其发病机制的机制。