VEXAS syndrome presenting with severe cutaneous manifestations, inflammatory arthritis, and myelodysplastic syndrome treated with Ruxolitinib.

Authors

Jared Tesch, Nada Alrifai, Beth Honl, Siddharth Singhal

Published in

Oxford medical case reports. Volume 2026. Issue 7. Pages omag121. Epub Jul 12, 2026.

Abstract

VEXAS syndrome is a recently identified adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene, leading to systematic inflammation and hematological dysfunctions. We present the case of a 71-year-old man with a prolonged history of cutaneous lesions and inflammatory arthritis that is refractory. Despite the treatment with multiple immunosuppressive therapies, his symptoms persisted alongside macrocytic anemia and thrombocytopenia. Genetic testing confirmed a UBA1 mutation, which established the diagnosis of VEXAS syndrome. A subsequent bone marrow biopsy revealed myelodysplastic syndrome. This case highlights the importance of early recognition of VEXAS syndrome, particularly in patients with multisystemic involvement and treatment-refractory disease. Therapies such as JAK inhibitors may provide effective disease control in patients who are not candidates for hematopoietic stem cell transplantation.

PMID:
42438666
Bibliographic data and abstract were imported from PubMed on 13 Jul 2026.

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