A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations.
A439V
CAPS
E148Q
FCAS
MEFV
elderly
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
01 Apr 2019
01 Apr 2019
Historique:
pubmed:
21
12
2018
medline:
22
5
2019
entrez:
21
12
2018
Statut:
ppublish
Résumé
We herein report a case of a 75-year-old woman who presented with a low-grade fever, repeated cold-induced urticaria, and painful leg edemas with neutrocytosis. Because her mother also had cold-induced urticaria and her skin lesions histologically showed neutrophilic dermatitis, we suspected that she had familial cold autoinflammatory syndrome, a subtype of cryopyrin-associated periodic syndromes. Sequencing of the NLRP3 and MEFV genes revealed that she carried both the p.A439V missense mutation and p.E148Q homozygous mutation, which is commonly detected in familial Mediterranean fever patients. The administration of colchicine reduced the frequency and severity of her skin rash and leg edema.
Identifiants
pubmed: 30568124
doi: 10.2169/internalmedicine.1401-18
pmc: PMC6478996
doi:
Substances chimiques
MEFV protein, human
0
NLR Family, Pyrin Domain-Containing 3 Protein
0
NLRP3 protein, human
0
Pyrin
0
DNA
9007-49-2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1017-1022Références
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