Recurrent superior orbital fissure syndrome associated with VEXAS syndrome

PURPOSE: 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. CASE PRESENTATION: 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. CONCLUSION: VEXAS syndrome should be considered in the differential diagnosis of orbital inflammatory disease associated with multi-system inflammatory disorders.