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Research Article: Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series

Date Published: 2023-07-26

Abstract:
Erythromelalgia is a descriptive term for severe burning pain and erythema in the distal extremities relieved by cold and exacerbated by heat. Pediatric case series to date are relatively small. We extracted and analyzed medical record data for 42 pediatric patients to describe clinical characteristics, associated conditions, and responses to treatments. Informed consent was obtained according to an IRB-approved protocol that included gene discovery. Three patients had confirmed Nav1.7 sodium channelopathies, with six additional patients under investigation with novel gene candidates. There was a female predominance (2.5:1), and the median onset age was 12 years (IQR = 3–14). Patients saw a median of three specialists (IQR = 2–3) for a diagnosis. The majority (90%) reported bilateral symptoms. Cooling methods usually provided partial relief, while heat and exercise exacerbated pain. No medication appeared to be consistently effective; commonly prescribed medications included sodium channel blockers (n = 37), topical analgesics (n = 26), gabapentin (n = 22), and aspirin (n = 15). Based on the currently published literature, we believe this cohort is the largest pediatric study of erythromelalgia to date. Many findings are consistent with those of previously published case series. Work is in progress to establish a prospective cohort and multi-center registry.

Introduction:
Erythromelalgia is a descriptive term for a rare, chronic pain disorder involving an intense burning sensation, warmth, and erythema, usually involving the distal extremities [1,2]. Pain most commonly occurs bilaterally and symmetrically, with feet more often affected than hands, and less frequently in the face and ears [1]. Symptoms are worsened by ambient or local heat exposure and generally partially relieved by the application of local cooling, such as immersing extremities in ice water [1,3].

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