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primary erythermalgia

MIM.133020 2q24

Monday 9 January 2006

Erythermalgia is an inherited painful neuropathy. Inherited erythermalgia (also termed erythromelalgia) is characterized by severe pain in the limbs in response to mild thermal stimuli or exercise.

Etiology

- primary erythermalgia can be caused by mutation in the SCN9A gene (MIM.603415), encoding a voltage-gated sodium channel Na(v)1.7

  • SCN9A is selectively expressed within nociceptive dorsal root ganglion and sympathetic ganglion neurons.
  • Shifts in activation and deactivation, and enhanced responses to small stimuli in SCN9A mutant channels, decrease the threshold for single impulses and high-frequency trains of impulses in pain-sensing neurons.

References

- Waxman SG, Dib-Hajj S. Erythermalgia: molecular basis for an inherited pain syndrome. Trends Mol Med. 2005 Dec;11(12):555-62. PMID: 16278094