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

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

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Article number	1360248
Number of pages	8
Journal	Frontiers in medicine
Volume	11
DOIs	https://doi.org/10.3389/fmed.2024.1360248
Publication status	Published - 5 Feb 2024

Keywords

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

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10.3389/fmed.2024.1360248Licence: CC BY

Cite this

Niedzwiedz, M., Narbutt, J., Siekierko, A., Skibinska, M., Kwiek, B., Sobolewska-Sztychny, D., Ciazynska, M., Poznanska-Kurowska, K., Gostynski, A., & Lesiak, A. (2024). Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel CARD14 mutation. Frontiers in medicine, 11, Article 1360248. https://doi.org/10.3389/fmed.2024.1360248

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

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.",

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

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Niedzwiedz, M, Narbutt, J, Siekierko, A, Skibinska, M, Kwiek, B, Sobolewska-Sztychny, D, Ciazynska, M, Poznanska-Kurowska, K, Gostynski, A & Lesiak, A 2024, 'Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel CARD14 mutation', Frontiers in medicine, vol. 11, 1360248. https://doi.org/10.3389/fmed.2024.1360248

TY - JOUR

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T2 - Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel CARD14 mutation

AU - Niedzwiedz, Michal

AU - Narbutt, Joanna

AU - Siekierko, Aleksandra

AU - Skibinska, Malgorzata

AU - Kwiek, Bartlomiej

AU - Sobolewska-Sztychny, Dorota

AU - Ciazynska, Magdalena

AU - Poznanska-Kurowska, Katarzyna

AU - Gostynski, Antoni

AU - Lesiak, Aleksandra

PY - 2024/2/5

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AB - 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.

KW - CARD14

KW - CAPE

KW - biologics

KW - adalimumab

KW - ustekinumab

KW - case report

KW - CARD14: c.394A > T/- (Ile123Phe)

KW - CARD14-associated papulosquamous eruption

KW - PSORIASIS

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DO - 10.3389/fmed.2024.1360248

M3 - Article

SN - 2296-858X

VL - 11

JO - Frontiers in medicine

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