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

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

doi:10.3389/fmed.2024.1360248

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

Front Med (Lausanne). 2024 Feb 5:11:1360248. doi: 10.3389/fmed.2024.1360248. eCollection 2024.

Affiliations

¹ Department of Dermatology, Pediatric Dermatology and Oncology, Medical University of Lodz, Lodz, Poland.
² International Doctoral School, Medical University of Lodz, Lodz, Poland.
³ Dermatology and Pediatric Dermatology Ward, Bieganski Hospital, Lodz, Poland.
⁴ Medical Faculty, Lazarski University, Warsaw, Poland.
⁵ Laboratory of Autoinflammatory, Genetic and Rare Skin Disorders, Medical University of Lodz, Lodz, Poland.
⁶ Department of Dermatology, Maastricht University Medical Centre, Maastricht, Netherlands.
⁷ GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, Netherlands.

Abstract

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.

Keywords: CAPE; CARD14; CARD14-associated papulosquamous eruption; CARD14: c.394A > T/− (Ile123Phe); adalimumab; biologics; case report; ustekinumab.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This research was supported by statutory activities funds of the Medical University of Lodz no. 503/5-064-04/503-01.