Pace Nikolai Paul, Mintoff Dillon, Borg Isabella
Center for Molecular Medicine and Biobanking, University of Malta, Msida, Malta.
Department of Pathology, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
Front Genet. 2022 Mar 23;13:861241. doi: 10.3389/fgene.2022.861241. eCollection 2022.
Hidradenitis suppurativa is a chronic, suppurative condition of the pilosebaceous unit manifesting as painful nodules, abscesses, and sinus tracts mostly in, but not limited to, intertriginous skin. Great strides have been made at elucidating the pathophysiology of hidradenitis suppurativa, which appears to be the product of hyperkeratinization and inflammation brought about by environmental factors and a genetic predisposition. The identification of familial hidradenitis suppurativa has sparked research aimed at identifying underlying pathogenic variants in patients who harbor them. The objective of this review is to provide a broad overview of the role of genetics in various aspects of hidradenitis suppurativa, specifically the pathophysiology, diagnosis, and clinical application.
化脓性汗腺炎是一种毛囊皮脂腺单位的慢性化脓性疾病，主要表现为疼痛性结节、脓肿和窦道，好发于但不限于皮肤褶皱处。在阐明化脓性汗腺炎的病理生理学方面已经取得了很大进展，其似乎是由环境因素和遗传易感性导致的角化过度和炎症的产物。家族性化脓性汗腺炎的发现引发了旨在识别携带相关致病变异患者潜在致病基因变异的研究。本综述的目的是全面概述遗传学在化脓性汗腺炎各个方面的作用，特别是病理生理学、诊断和临床应用。
