INTRODUCTION The sodium channel Nav 1.9 is expressed in peripheral nociceptors and has recently been linked to human pain conditions, but the exact role of Nav 1.9 for human nociceptor excitability is still unclear. METHODS C-nociceptors from two patients with late onset of erythromelalgia-like pain, signs of small fiber neuropathy, and rare genetic variants of Nav 1.9 (N1169S, I1293V) were a...

Erythromelalgia is characterized by spontaneous recurrent episodes of redness, heat, and pain of the extremities that can be triggered or worsened by heat. Raynaud's phenomenon occurs in response to cold exposure and presents as pallor of the fingers or toes, often followed by cyanosis and rubor. Although the 2 conditions may appear to be opposites in symptomatology and clinical presentation, t...

Erythromelalgia is a rare disorder characterized by recurrent pain attacks, swelling and redness in the distal extremities. The primary forms of the disorder are caused by mutations in voltage-gated sodium channels. Treatment is difficult and controlled therapeutic studies offer little to no guidance. We report on a 12-year-old boy and his first occurrence of primary erythromelalgia. Genetic fi...