Abstract：
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.
摘要：
VEXAS（空泡，E1酶，X-linked,自身炎症和体细胞突变）综合征是一种新型的自身炎症，迟发性,疾病于2020年首次发现。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学，具有特征性皮肤特征的报告是该疾病的最初表现。VEXAS是一种严重且难以治疗的疾病，具有很高的发病率和死亡率。这里,我们研究了2023年3月之前所有VEXAS综合征的病例报告和病例系列,重点关注有皮肤表现的患者.我们讨论这些表现及其报告的治疗策略。在许多情况下,它可能首先被皮肤科医生怀疑和诊断，强调他们在及时启动多学科护理方面的重要作用。
