Presentation of cryopyrin‐associated periodic fever syndrome as chronic, afebrile urticaria in a 12‐month‐old female

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...

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Bibliographic Details
Published in:Pediatric dermatology 2023-05, Vol.40 (3), p.532-533
Main Authors: Fitzgerald, Lauren A., Drissi, Madeeha, Sepulveda, Kirstin, Hovland, Christopher, Hendrick, Sophia J., Dubrocq, Gueorgui
Format: Article
Language:English
Subjects:
Antihistamines
Babies
Case reports
Cryopyrin
Cryopyrin-Associated Periodic Syndromes - complications
Cryopyrin-Associated Periodic Syndromes - diagnosis
Cryopyrin-Associated Periodic Syndromes - drug therapy
cryopyrin‐associated periodic syndromes
Exanthema
Female
Fever
Genetic screening
genetic testing
Humans
Infant
Mutation
NLR Family, Pyrin Domain-Containing 3 Protein - genetics
Pediatrics
rheumatic diseases
Treatment resistance
Urticaria
Urticaria - diagnosis
Urticaria - drug therapy
Urticaria - etiology
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Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.15188