Track: Case Reports

Abstract:

We report a case of a 55-year-old man with monoclonal gammopathy of undetermined significance and polyarthritis who presented with worsening painful ulcerations of the lower extremities. Biopsy demonstrated a diffuse neutrophilic infiltrate, consistent with pyoderma gangrenosum. He subsequently developed dyspnea, and imaging revealed transmural aortitis. Given the complex clinical picture with multisystem involvement, next-generation sequencing was performed to evaluate for mutations associated with autoinflammatory syndromes, including vacuoles, E1 ubiquitin conjugating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. Testing revealed a pathogenic NOD2 variant. Germline NOD2 mutations are associated with Yao and Blau syndromes, which are characterized by recurrent fevers, dermatitis, arthralgias, and gastrointestinal symptoms, and by granulomatous dermatitis, arthritis, and uveitis, respectively. Our case expands the spectrum of cutaneous findings that may manifest with NOD2 gene dysregulation. It highlights an additional syndrome to consider in an adult male with hematologic dyscrasia, systemic inflammation, and neutrophilic infiltrates on skin biopsy.

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Amanda Onalaja-Underwood