VEXAS syndrome: A case of misdiagnosed dermatologic and rheumatologic manifestations in a 77-year-old male

Summary: Abstract Body: We present a case of VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome regarding a 77-year-old Caucasian male. The patient initially presented with widespread dermatitis of unclear etiology with a longstanding history of dermatologic issues for over 10 years. The patient has a history of oral ulcers, diabetes, anemia of uncertain etiology, and lab findings positive for antiphospholipid and double stranded DNA antibodies. Prior visits for his pruritic rashes were suggestive of spongiotic dermatitis or Sweet’s Syndrome. Multiple biopsies obtained at separate visits showed findings consistent with both leukocytoclastic vasculitis as well as neutrophilic dermatoses. The patient’s symptoms did not resolve despite immunomodulatory and immunosuppressive medications, such as prednisone, dupilumab, and clobetasol. During treatment, the patient was newly diagnosed with relapsing polychondritis, suggestive of VEXAS syndrome. A repeat bone marrow biopsy revealed rare cells with cytoplasmic vacuolization. Such clinical and lab findings led to a diagnosis of VEXAS syndrome, which was confirmed by genetic testing showing a pathogenic mutation in the gene UBA1. The patient was continued on prednisone, hydroxychloroquine, and dupilumab. VEXAS syndrome is a newly described pathological entity that may mimic different systemic rheumatologic disorders associated to myelodysplastic syndrome, such as Sweet’s Syndrome. The syndrome has a heterogenous presentation, making diagnosis difficult. Clinical findings of VEXAS syndrome include fever, chondritis, cytopenia, pulmonary infiltrates, neutrophilic dermatosis and vasculitis. As seen in our case, the patient presented with initial vague dermatologic manifestations, but later developed many key findings of the disease. Teresa T. Duong^{1, 2}, Alexandra Elder^{1, 2}, Sherry Yang² 1. Thomas Jefferson University Sidney Kimmel Medical College, Philadelphia, PA, United States. 2. Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, United States. Clinical Research: Epidemiology and Observational Research