Abstract：
Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a recently described disease associated with high morbidity and mortality. VEXAS syndrome results from a somatic mutation affecting UBA1, a gene that codes for the E1 ubiquitin activating protein. Loss of UBA1 leads to a broad range of inflammatory conditions and a clinical course often refractive to therapy. We present the cases of two patients who demonstrated a rapid decline in overall health, decreased energy, arthralgias, anemia, fever, increased inflammatory markers, and characteristic bone marrow. Importantly, dermatologic assessment revealed skin biopsy findings of medium-vessel vasculitis and neutrophilic infiltration. Following blood analysis, both patients were diagnosed with VEXAS syndrome resulting from a mutation in the UBA1 gene. Our report highlights the pivotal role dermatologists have in early diagnosis of patients with VEXAS syndrome.
摘要：
液泡,E1酶，x-linked,自身炎症,和体细胞突变（VEXAS）综合征是最近描述的与高发病率和死亡率相关的疾病。VEXAS综合征是由影响UBA1的体细胞突变引起的，UBA1是编码E1泛素激活蛋白的基因。UBA1的缺失导致广泛的炎症状况和通常无法治疗的临床过程。我们介绍了两名患者的病例，他们的整体健康状况迅速下降，能量减少,关节痛,贫血,发烧,炎症标志物增加，和特征性的骨髓.重要的是,皮肤病学评估显示皮肤活检发现中等血管血管炎和中性粒细胞浸润。血液分析后,两名患者均因UBA1基因突变而被诊断为VEXAS综合征.我们的报告强调了皮肤科医生在VEXAS综合征患者早期诊断中的关键作用。
