Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Transplant Research Center, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Exp Dermatol. 2024 Mar;33(3):e15050. doi: 10.1111/exd.15050.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic mutation) syndrome is a novel autoinflammatory, late-onset, disorder first identified in 2020. It is caused by mutations in the UBA1 gene. The most prominent clinical features reported by VEXAS patients are cutaneous and haematological, having characteristic skin features reported as the initial presenting findings of the disease. VEXAS is a severe and treatment-resistant condition with high morbidity and mortality rates. Here, we examine all case reports and case series of VEXAS syndrome through March 2023 focusing on those presenting cutaneous manifestations. We discuss these manifestations and their reported treatment strategies. In many cases, it might be first suspected and diagnosed by dermatologists, highlighting their vital role in initiating timely multidisciplinary care.
VEXAS（空泡、E1 酶、X 连锁、自身炎症和体细胞突变）综合征是一种新型的自身炎症性、迟发性疾病，于 2020 年首次被发现。它是由 UBA1 基因突变引起的。VEXAS 患者报告的最突出的临床特征是皮肤和血液系统的，具有特征性的皮肤特征，被报道为该疾病的初始表现。VEXAS 是一种严重且治疗抵抗的疾病，具有高发病率和死亡率。在这里，我们通过 2023 年 3 月检查了所有关于 VEXAS 综合征的病例报告和病例系列，重点关注那些表现出皮肤表现的病例。我们讨论了这些表现及其报告的治疗策略。在许多情况下，皮肤科医生可能首先怀疑并诊断出这种疾病，突出了他们在及时启动多学科治疗方面的重要作用。
