Erythromelalgia

Inherited erythromelalgia

• This is caused by mutations in the the SCN9A gene
• These are Na (v)1.7 sodium channel gain-of-function mutations
• The transmission is autosomal dominant
• It is usually familial but it may be sporadic

Secondary causes of erythromelalgia

Pathology

Clinical features

Differential diagnosis: paroxysmal extreme pain disorder

Differential diagnosis: familial episodic pain syndrome

Treatment

References

1. Han C, Dib-Hajj SD, Lin Z, et al. Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. Brain 2009; 132:1711-722.
2. Themistocleous AC, Ramirez JD, Serra J, Bennett DL. The clinical approach to small fibre neuropathy and painful channelopathy. Pract Neurol 2014; 14:368-379.
3. Khalid F, Hassan S, Qureshi S, Qureshi W, Amer S. Erythromelalgia: an uncommon presentation precipitated precipitated by aspirin withdrawal. Case Rep Med 2012; 2012:616125.
4. Eisler T, Hall RP, Kalavar KA, Calne DB. Erythromelalgia-like eruption in parkinsonian patients treated with bromocriptine. Neurology 1981; 31:1368-1370.
5. Vendrell J, Nubiola A, Goday A, et al. Erythromelalgia associated with acute diabetic neuropathy: an unusual condition. Diabetes Res 1988; 7:149-51.
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