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

Pediatr Dermatol. 2023 May-Jun;40(3):532-533. doi: 10.1111/pde.15188. Epub 2022 Nov 16.

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.

Keywords: cryopyrin-associated periodic syndromes; fever; genetic testing; rheumatic diseases; urticaria.

Publication types

  • Case Reports

MeSH terms

  • Cryopyrin-Associated Periodic Syndromes* / complications
  • Cryopyrin-Associated Periodic Syndromes* / diagnosis
  • Cryopyrin-Associated Periodic Syndromes* / drug therapy
  • Exanthema*
  • Female
  • Fever
  • Humans
  • Infant
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein / genetics
  • Urticaria* / diagnosis
  • Urticaria* / drug therapy
  • Urticaria* / etiology

Substances

  • NLR Family, Pyrin Domain-Containing 3 Protein