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dc.contributor.authorArthur, Luke Nen_US
dc.contributor.authorKeen, Kirstyen_US
dc.contributor.authorVerriotis, Men_US
dc.contributor.authorPeters, Judyen_US
dc.contributor.authorKelly, Alisonen_US
dc.contributor.authorHoward, Richard Fen_US
dc.contributor.authorDib-Hajj, Sulayman Den_US
dc.contributor.authorWaxman, Stephen Gen_US
dc.contributor.authorWalker, Suellen Men_US
dc.description.abstractOBJECTIVES: To evaluate the clinical features of erythromelalgia in childhood associated with gain-of-function SCN9A mutations that increase activity of the Nav1.7 voltage-gated sodium channel, we conducted a systematic review of pediatric presentations of erythromelalgia related to SCN9A mutations, and compared pediatric clinical presentations of symptomatic erythromelalgia, with or without SCN9A mutations. STUDY DESIGN: PubMed, Embase, and PsycINFO Databases were searched for reports of inherited erythromelalgia in childhood. Clinical features, management, and genotype were extracted. Case notes of pediatric patients with erythromelalgia from the Great Ormond Street Hospital Pain Service were reviewed for clinical features, patient-reported outcomes, and treatments. Children aged over 10 years were recruited for quantitative sensory testing. RESULTS: Twenty-eight publications described erythromelalgia associated with 15 different SCN9A gene variants in 25 children. Pain was severe and often refractory to multiple treatments, including nonspecific sodium channel blockers. Skin damage or other complications of cold immersion for symptomatic relief were common (60%). SCN9A mutations resulting in greater hyperpolarizing shifts in Nav1.7 sodium channels correlated with symptom onset at younger ages (Pā€‰=ā€‰.016). Variability in reporting, and potential publication bias toward severe cases, limit any estimations of overall prevalence. In our case series, symptoms were similar but comorbidities were more common in children with SCN9A mutations. Quantitative sensory testing revealed marked dynamic warm allodynia. CONCLUSIONS: Inherited erythromelalgia in children is associated with difficult-to-manage pain and significant morbidity. Standardized reporting of outcome and management in larger series will strengthen identification of genotype-phenotype relationships. More effective long-term therapies are a significant unmet clinical need.en_US
dc.subjectneuropathic painen_US
dc.subjectsodium channelopathyen_US
dc.titlePediatric erythromelalgia and SCN9A mutations: systematic review and single-center case seriesen_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleThe Journal of Pediatricsen_US
dc.description.affiliatesUniversity College Londonen_US
dc.type.studyortrialSystematic Reviewsen_US
dc.contributor.anzcaArthur, LNen_US
dc.contributor.anzcaWalker, SMen_US
dc.identifier.studynameR&D No: 17NC02; GOSH NHS Permission 5-5-2017en_US
Appears in Collections:Scholarly and Clinical

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