دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.
المؤلفون: Sun J; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA., Ocay DD; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Anaesthesia, Harvard Medical School, Boston, MA 02115, USA., Halpin M; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA., Lobo K; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA., Frohman DFT; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA., Donado C; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Anaesthesia, Harvard Medical School, Boston, MA 02115, USA., Brownstein CA; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Genetti CA; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Madden A; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Berde CB; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Anaesthesia, Harvard Medical School, Boston, MA 02115, USA.
المصدر: Children (Basel, Switzerland) [Children (Basel)] 2023 Jul 26; Vol. 10 (8). Date of Electronic Publication: 2023 Jul 26.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI AG, [2014]-
مستخلص: 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.
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معلومات مُعتمدة: N/A Sara Page Mayo Endowment for Pediatric Pain Research; N/A Boston Children's Hospital Children's Rare Disease Cohorts Initiative
فهرسة مساهمة: Keywords: erythromelalgia; small-fiber neuropathy; sodium channelopathy
تواريخ الأحداث: Date Created: 20230826 Latest Revision: 20230828
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC10453121
DOI: 10.3390/children10081282
PMID: 37628281
قاعدة البيانات: MEDLINE
الوصف
تدمد:2227-9067
DOI:10.3390/children10081282