Erythromelalgia (EM) is a rare neurovascular syndrome. It is non-discriminatory, affecting all ages, ethnicities and genders with an estimated incidence of 1 per 100,000. There are 3 types of EM: primary genetic (caused by mutations in the SCN9A, SCN10A and SCN11A genes), primary idiopathic (unknown cause), and a secondary form (attributed to an underlying condition such as an autoimmune, certain medications, injury, surgery, hormonal changes etc.)
The localized form affects one or two areas – primarily the feet and hands – and the widespread form affects multiple areas such as the face, ears, upper and lower limbs, knees, torso, scalp, genitals and, rarer still, the internal organs. Excruciating, painful flares can present episodically or continuously. There is no diagnostic test for EM, but it is hypothesized that it involves microvascular arteriovenous shunting and vasomotor abnormalities.
Symptoms of EM include: burning pain in affected areas, pain provoked by heat, pain alleviated by cooling (sometimes by elevation), redness of skin, and increased skin temperature (palpable or by thermography).Therapeutic management is challenging and requires a multidisciplinary approach.
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