Dash Ankita, O'Hagan Art, Holte Kristofer, Friel John Joseph, Venkatraman Lakshmi
Internal Medicine, Southern Health and Social Care Trust , NHS, Newry, UK.
Dermatology, Southern Health and Social Care Trust, NHS, Craigavon, UK.
Ulster Med J. 2025 Apr;94(1):24-27. Epub 2025 Apr 30.
VEXAS syndrome is a rare and recently identified autoinflammatory disorder recently, characterized by the involvement of multiple organ systems, with manifestations in dermatology, hematology, and rheumatology. The syndrome results from a somatic mutation in the UBA1 gene, leading to defective ubiquitin-mediated protein degradation, which triggers a cascade of inflammatory responses. We report the case of a 76-year-old male who presented with a recurrent rash initially suggestive of Sweet's syndrome. Following a comprehensive diagnostic workup, including genetic testing, the patient was diagnosed with VEXAS syndrome due to the identification of a pathogenic variant in the UBA1 gene. This case highlights the diagnostic challenges clinicians face when confronting rare syndromes with nonspecific clinical features. The absence of formal diagnostic criteria and its overlap with more common inflammatory and haematologic diseases complicates prompt diagnosis and management. Timely recognition, genetic confirmation, and early intervention are critical for preventing disease progression and improving outcomes in VEXAS patient.
VEXAS综合征是一种罕见的、最近才被确认的自身炎症性疾病，其特征是多器官系统受累，在皮肤科、血液科和风湿科均有表现。该综合征由UBA1基因的体细胞突变引起，导致泛素介导的蛋白质降解缺陷，从而引发一系列炎症反应。我们报告了一例76岁男性病例，该患者最初出现反复皮疹，提示为Sweet综合征。经过包括基因检测在内的全面诊断检查，由于在UBA1基因中发现了一个致病变体，该患者被诊断为VEXAS综合征。该病例突出了临床医生在面对具有非特异性临床特征的罕见综合征时所面临的诊断挑战。缺乏正式的诊断标准以及它与更常见的炎症性和血液学疾病的重叠，使得及时诊断和管理变得复杂。及时识别、基因确认和早期干预对于预防VEXAS患者的疾病进展和改善预后至关重要。
