Erythromelalgia presenting as recurrent purpura and hypogammaglobulinemia: A case report

Karasawa Takao, Hashimoto Shun, Sato Riko, Fujita Masashi, Aizawa Tomomi, Tsugawa Koji, Toki Tsutomu, Kanezaki Rika, Sato Tomohiko, Kudo Ko, Terui Kiminori, Tanaka Hiroshi

doi:10.32216/hirosakiigaku.72.1-4_80

Erythromelalgia is a rare clinical entity that manifests as redness, heat, and burning pain in the extremities. The causative gene for erythromelalgia, SCN9A, encodes a voltage-gated sodium channel, subtype Nav1.7. We report a case of a 26-year-old woman with erythromelalgia. She had 15-year history of recurrent purpura and swelling in the lower extremities. At 16 years of age, she was diagnosed with skin biopsy-proven leukocytoclastic vasculitis associated with unexpected hypogammaglobulinemia (IgG 320 mg/dL, IgA 12 mg/dL, IgM 35 mg/dL). Under the tentative diagnosis of refractory IgA vasculitis, she was treated with prednisolone and intravenous immunoglobulin administration. However, the therapeutic intervention was only partially effective. Because of an atypical clinical course of IgA vasculitis, a genetic analysis for erythromelalgia was conducted when at 25 years of age, which revealed a pathogenetic mutation in the SCN9A gene. Her mother also had the same mutation. After the diagnosis of erythromelalgia, carbamazepine administration was initiated and the treatment was successful. Unusual clinical manifestations of refractory purpura and hypogammaglobulinemia sometimes occur in selected patients with erythromelalgia. This case may contribute to the expansion of phenotypic presentation of erythromelalgia.

Erythromelalgia presenting as recurrent purpura and hypogammaglobulinemia: A case report

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