ArticleOxford medical case reports2026
VEXAS syndrome presenting with severe cutaneous manifestations, inflammatory arthritis, and myelodysplastic syndrome treated with Ruxolitinib.
Article in Oxford medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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