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Article

Reflex sympathetic dystrophy-like unilateral erythema caused by a germline SCN9A variant.

European journal of medical genetics - 1 May 2026

Nakato Daisuke, Komatsu Rieko, Ono Ikumi, Misu Kumiko, Nakano Satsuki, Goto Yumiko, Miya Fuyuki, Kosaki Kenjiro

Abstract excerpt

Reflex sympathetic dystrophy (RSD), currently categorized within the spectrum of complex regional pain syndrome (CRPS), is typically considered an acquired disorder characterized by disproportionate pain, erythema, and autonomic changes. In contrast, inherited erythromelalgia is a genetic pain disorder most often caused by gain-of-function variants in SCN9A encoding the Nav1.7 sodium channel and usually presents...

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Identifiers

PMID: 41997215
DOI: 10.1016/j.ejmg.2026.105078

Genes

SCN9A

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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