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

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.