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Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations

Infantile pustular psoriasis (IPP) is an extremely rare skin disease associated with genetic factors. Gene mutations of IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment family member 14), and AP1S1 (the σ1C subunit of the adaptor protein complex 1) had been identified to be i...

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Autores principales: Tong, Xinyun, Li, Yang, Tang, Xianfa, Ding, Yantao, Sun, Yao, Zheng, Liyun, Pan, Yulong, Liu, Shengxiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871360/
https://www.ncbi.nlm.nih.gov/pubmed/36704338
http://dx.doi.org/10.3389/fgene.2022.1035037
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author Tong, Xinyun
Li, Yang
Tang, Xianfa
Ding, Yantao
Sun, Yao
Zheng, Liyun
Pan, Yulong
Liu, Shengxiu
author_facet Tong, Xinyun
Li, Yang
Tang, Xianfa
Ding, Yantao
Sun, Yao
Zheng, Liyun
Pan, Yulong
Liu, Shengxiu
author_sort Tong, Xinyun
collection PubMed
description Infantile pustular psoriasis (IPP) is an extremely rare skin disease associated with genetic factors. Gene mutations of IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment family member 14), and AP1S1 (the σ1C subunit of the adaptor protein complex 1) had been identified to be involved in the pathogenesis of IPP. IPP usually develops with no preceding psoriasis vulgaris (PV) or familial history. Here, we report a case of a 6-month-old infant and make the diagnosis of IPP by a series of examinations; subsequently, by detecting coexistent mutations of IL36RN and CARD14, the diagnosis is intensified from a genetic point of view. We treated the child with traditional oral and topical drugs regardless of the commonly used acitretin considering its potential side effects, such as skeletal toxicity, and the lesions got conspicuous improvement with much reduction of inflammation. Owing to the genetic mutation of IL-36, there had been reported cases focusing on anti-IL36 biological agents in the treatment of IPP, and it could be a new weapon to treat and improve such IL-36RN-deficient skin diseases.
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spelling pubmed-98713602023-01-25 Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations Tong, Xinyun Li, Yang Tang, Xianfa Ding, Yantao Sun, Yao Zheng, Liyun Pan, Yulong Liu, Shengxiu Front Genet Genetics Infantile pustular psoriasis (IPP) is an extremely rare skin disease associated with genetic factors. Gene mutations of IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment family member 14), and AP1S1 (the σ1C subunit of the adaptor protein complex 1) had been identified to be involved in the pathogenesis of IPP. IPP usually develops with no preceding psoriasis vulgaris (PV) or familial history. Here, we report a case of a 6-month-old infant and make the diagnosis of IPP by a series of examinations; subsequently, by detecting coexistent mutations of IL36RN and CARD14, the diagnosis is intensified from a genetic point of view. We treated the child with traditional oral and topical drugs regardless of the commonly used acitretin considering its potential side effects, such as skeletal toxicity, and the lesions got conspicuous improvement with much reduction of inflammation. Owing to the genetic mutation of IL-36, there had been reported cases focusing on anti-IL36 biological agents in the treatment of IPP, and it could be a new weapon to treat and improve such IL-36RN-deficient skin diseases. Frontiers Media S.A. 2023-01-10 /pmc/articles/PMC9871360/ /pubmed/36704338 http://dx.doi.org/10.3389/fgene.2022.1035037 Text en Copyright © 2023 Tong, Li, Tang, Ding, Sun, Zheng, Pan and Liu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Tong, Xinyun
Li, Yang
Tang, Xianfa
Ding, Yantao
Sun, Yao
Zheng, Liyun
Pan, Yulong
Liu, Shengxiu
Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
title Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
title_full Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
title_fullStr Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
title_full_unstemmed Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
title_short Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
title_sort case report: infantile generalized pustular psoriasis with il36rn and card14 gene mutations
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871360/
https://www.ncbi.nlm.nih.gov/pubmed/36704338
http://dx.doi.org/10.3389/fgene.2022.1035037
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