Chu Yi-Lun, Yu Sebastian
Department of Dermatology, Kaohsiung Medical University Hospital, Kaohsiung 807377, Taiwan.
School of Post-Baccalaureate Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807378, Taiwan.
Biomedicines. 2024 Feb 1;12(2):338. doi: 10.3390/biomedicines12020338.
Hidradenitis suppurativa (HS), recognized as a chronic and debilitating skin disease, presents significant challenges in both diagnosis and treatment. This review explores the clinical manifestations, genetic landscape, and molecular mechanisms underlying HS. The disease's association with a predisposing genetic background, obesity, smoking, and skin occlusion underscores the complexity of its etiology. Genetic heterogeneity manifests in sporadic, familial, and syndromic forms, with a focus on mutations in the γ-secretase complex genes, particularly NCSTN. The dysregulation of immune mediators, including TNF-α, IL-17, IL-1β, and IL-12/23, plays a crucial role in the chronic inflammatory nature of HS. Recent advancements in genetic research have identified potential therapeutic targets, leading to the development of anti-TNF-α, anti-IL-17, anti-IL-1α, and anti-IL-12/23 therapies and JAK inhibitors. These interventions offer promise in alleviating symptoms and improving the quality of life for HS patients.
化脓性汗腺炎（HS）是一种慢性且使人衰弱的皮肤病，在诊断和治疗方面都面临重大挑战。本综述探讨了HS的临床表现、遗传格局及潜在分子机制。该疾病与遗传易感性背景、肥胖、吸烟和皮肤闭塞的关联凸显了其病因的复杂性。遗传异质性表现为散发性、家族性和综合征性形式，重点关注γ-分泌酶复合体基因（特别是NCSTN）的突变。免疫介质（包括TNF-α、IL-17、IL-1β和IL-12/23）的失调在HS的慢性炎症本质中起关键作用。遗传研究的最新进展已确定了潜在的治疗靶点，从而推动了抗TNF-α、抗IL-17、抗IL-1α、抗IL-12/23疗法以及JAK抑制剂的研发。这些干预措施有望缓解HS患者的症状并改善其生活质量。
