Skin Manifestations of VEXAS Syndrome and Associated Genotypes

作者：Isabella J. Tan, Marcela A. Ferrada, Serene Ahmad, Alice Fike, Kaitlin A. Quinn, Emma M. Groarke, David B. Beck, Jill Allbritton, Leslie Castelo‐Soccio, Neal S. Young, Bhavisha A. Patel, Peter C. Grayson, Edward W. Cowen · 发表于：JAMA Dermatology · 年份：2024 · DOI：10.1001/jamadermatol.2024.1657 · 被引用次数：52 · 研究领域：Otitis Media and Relapsing Polychondritis、Osteomyelitis and Bone Disorders Research、Vascular Anomalies and Treatments

Importance: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined genetic disease with an estimated prevalence of 1 in 4269 men older than 50 years and is marked by systemic inflammation, progressive bone marrow failure, and inflammatory cutaneous manifestations. Objective: To define the spectrum of cutaneous manifestations in VEXAS syndrome and the association of these findings with clinical, genetic, and histological features. Design, Setting, and Participants: This observational cohort study included data from 112 patients who were diagnosed with VEXAS-defining genetic variants in UBA1 between 2019 and 2023. Data were collected from medical record review or from patients with VEXAS directly evaluated at the National Institutes of Health in Bethesda, Maryland. Main Outcomes and Measures: To define the spectrum of cutaneous manifestations in VEXAS in association with genetic, histological, and other clinical findings. A secondary outcome was cutaneous response to treatment in VEXAS. Results: Among the 112 patients (median [range] age, 69 [39-79] years; 111 [99%] male), skin involvement was common (93 [83%]), and the most frequent presenting feature of disease (68 [61%]). Of 64 histopathologic reports available from 60 patients, predominant skin histopathologic findings were leukocytoclastic vasculitis (23 [36%]), neutrophilic dermatosis (22 [34%]), and perivascular dermatitis (19 [30%]). Distinct pathogenic genetic variants were associa...