Myint Katie, Patrao Namritha, Vonica Oana, Vahdani Kaveh
Adnexal Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Royal Eye Unit, Kingston Hospital NHS Foundation Trust, Surrey, UK.
J Ophthalmic Inflamm Infect. 2023 Sep 7;13(1):39. doi: 10.1186/s12348-023-00362-1.
To describe a case of recurrent orbital inflammation and superior orbital fissure syndrome associated with VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome.
VEXAS syndrome is a recently identified multi-system inflammatory disease of late adult onset. The authors describe the case of a 76-year-old man who presented with recurrent episodes of orbital inflammation, with superior orbital fissure syndrome, dacryoadenitis and orbital myositis. He had a constellation of systemic disorders including recurrent chest infections, congestive cardiac failure, pulmonary emboli and skin rashes. The underlying diagnosis of VEXAS syndrome was confirmed by genetic testing, which revealed the UBA1 mutation.
VEXAS syndrome should be considered in the differential diagnosis of orbital inflammatory disease associated with multi-system inflammatory disorders.
描述一例与VEXAS（空泡、E1酶、X连锁、自身炎症性、体细胞）综合征相关的复发性眼眶炎症和眶上裂综合征病例。
VEXAS综合征是一种最近发现的成年晚期发病的多系统炎症性疾病。作者描述了一名76岁男性病例，该患者出现复发性眼眶炎症发作，伴有眶上裂综合征、泪腺炎和眼眶肌炎。他患有一系列全身性疾病，包括反复的胸部感染、充血性心力衰竭、肺栓塞和皮疹。基因检测证实了VEXAS综合征的潜在诊断，该检测揭示了UBA1突变。
在鉴别诊断与多系统炎症性疾病相关的眼眶炎症性疾病时，应考虑VEXAS综合征。
