A severe case of primary erythromelalgia presenting as small fiber neuropathy with a novel SCN9A mutation.
CGRP
SCN9A
neuropeptides
primary erythromelalgia
substance P
Journal
The Journal of dermatology
ISSN: 1346-8138
Titre abrégé: J Dermatol
Pays: England
ID NLM: 7600545
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
revised:
12
01
2023
received:
05
10
2022
accepted:
05
02
2023
medline:
3
7
2023
pubmed:
24
2
2023
entrez:
23
2
2023
Statut:
ppublish
Résumé
Primary erythromelalgia (PEM) is a rare condition characterized by severe burning pain, erythema, and increased temperature in the extremeties. Mutations in the Nav1.7 sodium channel encoded by the SCN9A are responsible for PEM. The pathophysiology of PEM is unclear, but the involvement of neurogenic and vasogenic mechanisms has been suggested. Here we report a case of severe PEM in a 9-year-old child with a novel SCN9A mutation and examine the distribution of nerve fibers and expression of neuropeptides in the affected skin. Gene mutation analysis revealed a novel mutation p.L951I (c.2851C>A) in the heterozygous form of the SCN9A. An immunofluorescence study showed that intraepidermal nerve fibers were decreased in the affected leg, suggesting small fiber neuropathy. There was no increase in the expression of substance P (SP) or calcitonin gene-related peptide (CGRP) in the lesional skin tissue. These findings suggest SP and CGRP do not play a major role in the pathophysiology of primary erythromelalgia.
Identifiants
pubmed: 36815391
doi: 10.1111/1346-8138.16754
doi:
Substances chimiques
NAV1.7 Voltage-Gated Sodium Channel
0
Calcitonin Gene-Related Peptide
JHB2QIZ69Z
SCN9A protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
938-941Informations de copyright
© 2023 Japanese Dermatological Association.
Références
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