Frontiers in Medicine (Feb 2024)

Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel CARD14 mutation

  • Michał Niedźwiedź,
  • Michał Niedźwiedź,
  • Joanna Narbutt,
  • Aleksandra Siekierko,
  • Małgorzata Skibińska,
  • Bartłomiej Kwiek,
  • Dorota Sobolewska-Sztychny,
  • Dorota Sobolewska-Sztychny,
  • Magdalena Ciążyńska,
  • Katarzyna Poznańska-Kurowska,
  • Antoni Gostyński,
  • Antoni Gostyński,
  • Aleksandra Lesiak,
  • Aleksandra Lesiak

DOI
https://doi.org/10.3389/fmed.2024.1360248
Journal volume & issue
Vol. 11

Abstract

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CARD14 (caspase activation and recruitment domain) mutations have been associated with psoriasis vulgaris, psoriatic arthritis, generalized and palmoplantar pustular psoriasis, pityriasis rubra pilaris, and atopic dermatitis. We present a pediatric patient with a novel CARD14: c.394A > T/− (Ile123Phe) mutation, diagnosed with CARD14-associated papulosquamous eruption (CAPE), who was successfully treated with biological treatment.

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