A case of inherited erythromelalgia

Nat Clin Pract Neurol. 2007 Apr;3(4):229-34. doi: 10.1038/ncpneuro0425.

Abstract

Background: A 15-year-old boy presented with recurrent episodes of erythema and burning pain in the distal extremities, which he had experienced since early childhood. The episodes were triggered by heat or exertion. His medical history revealed an extensive six-generation family history of similar symptoms.

Investigations: Neurological examination, MRI brain scan, electromyography, skin biopsy, laboratory blood testing, and DNA analysis.

Diagnosis: Juvenile onset primary erythromelalgia.

Management: Genetic counseling, and symptomatic management of neuropathic pain.

Publication types

  • Case Reports

MeSH terms

  • Action Potentials / genetics
  • Adolescent
  • Electromyography / methods
  • Erythromelalgia / complications
  • Erythromelalgia / genetics*
  • Erythromelalgia / pathology
  • Family Health*
  • Ganglia, Spinal / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • NAV1.7 Voltage-Gated Sodium Channel
  • Neuralgia / etiology
  • Neuralgia / genetics*
  • Neurons / physiology
  • Phenylalanine / genetics
  • Sodium Channels / genetics*
  • Valine / genetics

Substances

  • NAV1.7 Voltage-Gated Sodium Channel
  • SCN9A protein, human
  • Sodium Channels
  • Phenylalanine
  • Valine