Track: Case Reports

Abstract:

A 39-year-old otherwise healthy female presented to the dermatology clinic for evaluation of intermittent erythematous papules on the upper and lower extremities. These lesions were described as mildly pruritic with a burning sensation, lasting several days and typically exacerbated by heat. Flares have occurred approximately once per week since childhood, most commonly while at work. She had previously been diagnosed with urticaria, though symptoms were unresponsive to antihistamines. Fifteen years earlier, she was evaluated by rheumatology for recurrent anterior uveitis and arthritis, though no definitive etiology was identified. Family history was notable for arthritis in her mother and similar periodic skin lesions in her son. A punch biopsy from the right medial thigh demonstrated a superficial and deep perivascular and interstitial infiltrate of lymphocytes and neutrophils, with involvement around eccrine coils. These findings raised suspicion for an autoinflammatory urticarial dermatosis. Genetic testing via autoinflammatory panel revealed a pathogenic variant, 1322C>T, in the NLRP3 gene, consistent with Cryopyrin-Associated Periodic Syndrome (CAPS). This variant has been reported in association with Muckle-Wells syndrome (MWS), chronic infantile neurologic cutaneous and articular syndrome (CINCA), and overlapping phenotypes. Given the diagnosis, initiation of IL-1 inhibitor therapy is planned for symptom control and to prevent secondary systemic amyloidosis. Recognition of perieccrine infiltrates on histopathology should prompt the dermatopathologist to consider genetic autoinflammatory urticarial dermatoses. While rare, CAPS carries a risk of significant morbidity, making early recognition and treatment essential.

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Megan Walsh