Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation
AffiliationUniv Arizona, Coll Med, Dept Internal Med, Banner Univ Med Ctr
MetadataShow full item record
PublisherDOVE MEDICAL PRESS LTD
CitationComplex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation 2017, Volume 10:973 Journal of Pain Research
JournalJournal of Pain Research
Rights© 2017 Low et al. This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms. php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/).
Collection InformationThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at firstname.lastname@example.org.
AbstractA 41-year-old woman presented with burning and erythema in her extremities triggered by warmth and activity, which was relieved by applying ice. Extensive workup was consistent with adult-onset primary erythromelalgia (EM). Several pharmacological treatments were tried including local anesthetics, capsaicin, ziconotide, and dantrolene, all providing 24-48 hours of relief followed by symptom flare. Interventional therapies, including peripheral and sympathetic ganglion blocks, also failed. Thus far, clonidine and ketamine have been the only effective agents for our patient. Genetic testing was negative for an EM-associated mutation in the SCN9A gene, encoding the Na(V)1.7 sodium channel, suggesting a mutation in an alternate gene.
NoteOpen Access Journal
VersionFinal published version
SponsorsFoundation for Anesthesia Education and Research (FAER)
- Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.
- Authors: Arthur L, Keen K, Verriotis M, Peters J, Kelly A, Howard RF, Dib-Hajj SD, Waxman SG, Walker SM
- Issue date: 2019 Mar
- A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7.
- Authors: Wu B, Zhang Y, Tang H, Yang M, Long H, Shi G, Tang J, Shi X
- Issue date: 2017
- Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.
- Authors: Yang Y, Huang J, Mis MA, Estacion M, Macala L, Shah P, Schulman BR, Horton DB, Dib-Hajj SD, Waxman SG
- Issue date: 2016 Jul 13
- Autonomic dysfunction in SCN9A-associated primary erythromelalgia.
- Authors: Kim MK, Yuk JW, Kim HS, Park KJ, Kim DS
- Issue date: 2013 Apr
- Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.
- Authors: Han C, Lampert A, Rush AM, Dib-Hajj SD, Wang X, Yang Y, Waxman SG
- Issue date: 2007 Jan 19