A case of VEXAS syndrome manifesting as Kikuchi-Fujimoto disease, relapsing polychondritis, venous thromboembolism and macrocytic anaemia

Abstract

Dear Editor, VEXAS (vacuoles, E1 enzyme, X-linked, antiinflammatory, somatic) syndrome is a recently recognized adult-onset autoinflammatory syndrome due to somatic mutations affecting UBA1 reported by Beck and colleagues [1]. We report a case from Singapore, a 69-year-old ethnic Chinese male who presented in mid-2019 with periodic fevers associated with an urticarial eruption, painful cervical lymphadenitis, migratory arthralgia, pseudomembranous conjunctivitis, macrocytic anaemia and raised acute-phase reactants, including ferritin at a peak of 1280 μg/l. A detailed evaluation for infections, systemic CTD and solid organ malignancies was unremarkable. Bone marrow examination with cytogenetic studies was consistent with secondary myelodysplasia. Histopathological evaluation of lesional skin demonstrated a superficial, deep and interstitial infiltrate of mononuclear cells (positive for CD163 and MPO), MPO-positive neutrophils and histiocytes, with leukocytoclasia and increased dermal mucin (Fig. 1A–E). Infective stains and immunohistochemistry for blast cells were negative. This was consistent with histiocytoid Sweet syndrome...