Erythematous Plaques and Systemic Inflammation in VEXAS Syndrome

A 74-year-old male patient with a steroid-dependent course of neutrophilic dermatosis and macrocytic anemia presented to our special outpatient clinic for autoinflammatory diseases. Erythematous plaques had been present on the back of the neck for 2 years. Previous findings of note included myelodysplastic syndrome and “orbital cellulitis.” Against this backdrop, we evaluated the differential diagnosis of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). Retrospective bone marrow analysis yielded the characteristic finding of vacuoles in myeloid precursor cells. Testing demonstrated a pathogenic variant in the UBA1 gene (p.Met41Leu). VEXAS syndrome is an acquired autoinflammatory disorder that was first described in 2020 and is characterized by somatic mutations in hematopoietic precursor cells. The clinical picture typically comprises that of a systemic disease, involving inflammatory skin lesions, pulmonary infiltrates, nasal and/or auricular chondritis, periorbital inflammation, and hematological neoplasms. Those affected are almost exclusively males aged 50 years and over. Treatment includes glucocorticoids and biologic agents. The 5-year survival rate is 63%.

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Dr. med. Nikolas Ruffer, Dr. med. Martin Krusche: III. Medizinische Klinik und Poliklinik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, [e-mail]

Dr. med. Olaf Determann: MVZ HPH Institut für Pathologie und Hämatopathologie, Hamburg

Conflict of interest statement: The authors state that no conflict of interest exists.

Translated from the original German by Christine Rye.

Cite this as: Ruffer N, Determann O, Krusche M: Erythematous plaques and systemic inflammation in VEXAS syndrome. Dtsch Arztebl Int 2025; 122: 126. DOI: 10.3238/arztebl.m2024.0142