Frontiers in Immunology (Mar 2024)

Generalized pustular psoriasis in a toddler with IL36RN mutation: a case report

  • Ghaith Adi,
  • Mohammed Rami Shaath,
  • Kareem Adi,
  • Zaki Obaid,
  • Egab Aldosari,
  • Faten Ahmed AlKateb

DOI
https://doi.org/10.3389/fimmu.2024.1337799
Journal volume & issue
Vol. 15

Abstract

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Generalized Pustular Psoriasis (GPP) is a dermatological autoinflammatory disease that rarely occurs in children and is associated with complex genetic factors. GPP pathogenesis has been associated with mutations in IL36RN gene, which encodes an interleukin-36 receptor antagonist. GPP usually occurs without a history of psoriasis in the patients or their family members. This case report describes the clinical course of a 3-year-old toddler with GPP. The diagnosis of GPP was confirmed through a comprehensive series of examinations, and genetic testing revealed an IL36RN mutation, providing further insight into the genetic basis of the condition. This case highlights the importance of a genetic perspective for diagnosing GPP, particularly in children.

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