Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.
erythromelalgia
small-fiber neuropathy
sodium channelopathy
Journal
Children (Basel, Switzerland)
ISSN: 2227-9067
Titre abrégé: Children (Basel)
Pays: Switzerland
ID NLM: 101648936
Informations de publication
Date de publication:
26 Jul 2023
26 Jul 2023
Historique:
received:
23
06
2023
revised:
18
07
2023
accepted:
21
07
2023
medline:
26
8
2023
pubmed:
26
8
2023
entrez:
26
8
2023
Statut:
epublish
Résumé
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 (
Identifiants
pubmed: 37628281
pii: children10081282
doi: 10.3390/children10081282
pmc: PMC10453121
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Sara Page Mayo Endowment for Pediatric Pain Research
ID : N/A
Organisme : Boston Children's Hospital Children's Rare Disease Cohorts Initiative
ID : N/A
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