AUTHOR=Adi Ghaith , Shaath Mohammed Rami , Adi Kareem , Obaid Zaki , Aldosari Egab , AlKateb Faten Ahmed TITLE=Generalized pustular psoriasis in a toddler with IL36RN mutation: a case report JOURNAL=Frontiers in Immunology VOLUME=15 YEAR=2024 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2024.1337799 DOI=10.3389/fimmu.2024.1337799 ISSN=1664-3224 ABSTRACT=
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.