Annual Meeting Image Competition

Rabia Deniz, MD, PhD
Istanbul, Turkey

A 55-year-old male presented with new-onset knee arthritis (a-b), acute inferior MI, epididymitis, erysipelas-like erythema, and purpuric rash on the legs (c). During attacks, CRP was elevated 10-30 times, neutrophils were 2190/mm³, monocytes 5530/mm³, platelets 97,000/mm³, and hemoglobin 10.3 g/dL. Renal aneurysms detected on initial computed tomography angiography (d) led to right (e) and left (f) renal hemorrhages, occurring six months apart. Bone marrow biopsy (g-h-i) and flow cytometry (j) confirmed CMML, and NGS revealed unusual MEFV mutation (k). After colchicine-induced anaphylaxis, treatment with azacitidine for myeloid cells, low-dose steroids, and anakinra for inflammation successfully controlled FMF-PAN and CMML.

Pablo Finucci Curi, MD
Parana, Argentina

A 17-year-old man presented with a 7-month history of facial skin lesions, anterior chest and bilateral hip pain. Physical examination showed acne fulminans (A). Chest and pelvis X-rays as well as CT were normal. Bone scintigraphy revealed symmetrical increase in tracer uptake in the sacroiliac joints and sternoclavicular region, with a “bull´s head” appearance (B), pathognomonic of SAPHO Syndrome. The head belongs to the manubrio-sternal joint and the horns to the sternoclavicular joints.

Elizabeth Murray, MD
Columbus, Ohio

A 3-year-old male presented with recurrent fever, oral ulcers, rash, eye redness and linear growth deceleration. Colonoscopy demonstrated abnormal mucosa in the entire colon and ulceration in the terminal ileum. Further workup revealed a novel mutation in the RelA gene, c.1044dupC(p.Tyr349LeufsTer13), which plays a crucial role in the NF-KB pathway. He had partial response to colchicine.

His mother and half-sister had developed similar symptoms prior to age 5 and were found to have the same mutation. Other patients with RelA haploinsufficiency have phenotypes resembling IBD or Behcet's Disease, often with oral and genital ulcers, widespread rashes, ocular inflammation, or arthritis.

Sarath Chandra Mouli Veeravalli
Hyderabad, Telangana, India

A 39-year-old man presented with progressive dyspnoea, erythematous leg nodules, recurrent fevers, weight loss, periorbital swelling, and inflammatory arthritis since October 2021. Initial treatments for suspected pneumonitis and epididymo-orchitis showed partial responses. PET-CT revealed multi-system involvement including lungs, eyes, carotids, heart, and bone marrow. Bone marrow biopsy showed erythroid precursors with cytoplasmic vacuoles. Given the persistent systemic inflammation and multi-organ involvement, VEXAS syndrome was suspected. Genetic testing confirmed a UBA1 p.Met41Val mutation. He was diagnosed with VEXAS syndrome—a recently recognized X-linked autoinflammatory disorder—and is currently stable on low-dose corticosteroids and methotrexate.