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A case of inherited erythromelalgia

Nature Clinical Practice Neurology volume 3, pages 229–234 (2007)Cite this article

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.

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Figure 1: Photograph of the patient's feet showing erythema
Figure 2: The patient's family pedigree
Figure 3: Schematic diagram of a sodium channel showing the locations of the known mutations in Nav 1.7 in erythromelalgia
Figure 4: The effect of the F1449V mutation on the firing properties of dorsal root ganglion neurons

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Authors and Affiliations

  1. SP Novella is an Assistant Professor, FM Hisama is an Associate Professor, SD Dib-Hajj is a Research Scientist in Neurology, and SG Waxman is the Bridget Flaherty Professor of Neurology, Neurobiology, and Pharmacology, all at Yale University School of Medicine, Newhaven, CT, USA.,

    Steven P Novella, Fuki M Hisama, Sulayman D Dib-Hajj & Stephen G Waxman

Authors
  1. Steven P Novella
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  2. Fuki M Hisama
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  3. Sulayman D Dib-Hajj
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  4. Stephen G Waxman
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Corresponding author

Correspondence to Stephen G Waxman.

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The authors declare no competing financial interests.

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Novella, S., Hisama, F., Dib-Hajj, S. et al. A case of inherited erythromelalgia. Nat Rev Neurol 3, 229–234 (2007). https://doi.org/10.1038/ncpneuro0425

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  • DOI: https://doi.org/10.1038/ncpneuro0425

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