A case of VEXAS syndrome manifesting as Kikuchi-Fujimoto disease, relapsing polychondritis, venous thromboembolism and macrocytic anaemia
Samuel Shang Ming Lee, Bingwen Eugene Fan, Joel Lim, Liuh Ling Goh, Joyce Siong See Lee, Li Wearn Koh
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...