A case of inherited erythromelalgia.
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.


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


METHODS
Juvenile onset primary erythromelalgia.


RESULTS
Genetic counseling, and symptomatic management of neuropathic pain.
Novella
Steven P
SP
Department of Neurology, Yale University School of Medicine, New Haven, CT 06520-8018, USA.
Hisama
Fuki M
FM
Dib-Hajj
Sulayman D
SD
Waxman
Stephen G
SG
D000200:Action Potentials / Q000235:genetics; D000293:Adolescent; D004576:Electromyography / Q000379:methods; D004916:Erythromelalgia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005727:Ganglia, Spinal / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D062556:NAV1.7 Voltage-Gated Sodium Channel; D009437:Neuralgia / Q000209:etiology / Q000235:genetics*; D009474:Neurons / Q000502:physiology; D010649:Phenylalanine / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics*; D014633:Valine / Q000235:genetics
D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human; D015222:Sodium Channels; D010649:Phenylalanine; D014633:Valine