Erythromelalgia is a vascular acrosyndrome affecting mainly the feet and triggered by elevation of room temperature. It may be primary, or secondary, in particular to a polycythemia, when an increased platelet count plays an essential role, explaining the beneficial effect of aspirin or NSAI agents that inhibit platelet prostaglandin cyclo-oxygenase. The favorable action of beta-blockers could result from the possible existence of an anomaly of cutaneous adrenergic nerves.
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Gain-of-function variants in the voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, have previously been identified in patients with erythromelalgia, a clinical diagnosis defined by intermittent attacks of painful, hot, swollen, and red skin, predominantly involving the hands and feet. Symptoms are induced or aggravated by warming and relieved by cooling.
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Erythromelalgia, a rare cutaneous pain syndrome, is characterized by acral burning pain and flushing, often alleviated by cold and rest. Primary erythromelalgia is caused by gain-of-function mutations of genes encoding for sodium channels, resulting in hyperexcitability of pain signaling neurons. Autoimmunity and hematologic dyscrasias such as thrombocythemia have been implicated in secondary erythromelalgia.
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