A case of inherited erythromelalgia

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.