Primary erythromelalgia associated with an SCN9A variant can mimic systemic lupus erythematosus in skin manifestations: A case report

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17 Oct 2026 0 comments

Primary erythromelalgia (PEM) is a rare autosomal dominant disorder characterised by episodic erythema and burning pain of the extremities, typically triggered by exercise or fatigue. PEM usually begins in childhood and is caused by gain-of-function variants in SCN9A, which encodes the voltage-gated sodium channel Nav1.7. The disease concept of PEM, however, is largely unrecognised among rheumatologists. Here, we report a 20-year-old woman who had experienced recurrent burning pain and redness...