Presentation of cryopyrin-associated periodic fever syndrome as chronic, afebrile urticaria in a 12-month-old female.
Pediatr Dermatol
; 40(3): 532-533, 2023.
Article
em En
| MEDLINE
| ID: mdl-36382474
ABSTRACT
A healthy 12-month-old female presented with relapsing and remitting urticaria since birth that was resistant to treatment with antihistamines. A thorough history revealed extensive rheumatic disease on the father's side of the family, and subsequent genetic testing was positive for a missense variant of NLRP3, indicating cryopyrin-associated periodic fever syndrome (CAPS). CAPS encompasses a spectrum of diseases, all related to a defect in the same gene; manifestations vary in severity and presentation, but most are associated with recurrent rash and fever. Because the patient's only presenting symptom was rash, this case highlights the importance of having a high index of suspicion for cryopyrin-associated periodic fever syndrome in infants with persistent, early urticaria.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Urticária
/
Exantema
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Síndromes Periódicas Associadas à Criopirina
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos