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

Michal Niedzwiedz,Joanna Narbutt, Aleksandra Siekierko,Malgorzata Skibinska, Bartlomiej Kwiek,Dorota Sobolewska-Sztychny,Magdalena Ciazynska, Katarzyna Poznanska-Kurowska,Antoni Gostynski,Aleksandra Lesiak

FRONTIERS IN MEDICINE（2024）

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摘要

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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关键词

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

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