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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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
