A case of inherited erythromelalgia.

Nature clinical practice. Neurology

PubMedID: 17410110

Novella SP, Hisama FM, Dib-Hajj SD, Waxman SG. A case of inherited erythromelalgia. Nat Clin Pract Neurol. 2007;3(4):229-34.
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.