Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
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 |
_version_ | 1784877153778663424 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9871360 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT tongxinyun casereportinfantilegeneralizedpustularpsoriasiswithil36rnandcard14genemutations AT liyang casereportinfantilegeneralizedpustularpsoriasiswithil36rnandcard14genemutations AT tangxianfa casereportinfantilegeneralizedpustularpsoriasiswithil36rnandcard14genemutations AT dingyantao casereportinfantilegeneralizedpustularpsoriasiswithil36rnandcard14genemutations AT sunyao casereportinfantilegeneralizedpustularpsoriasiswithil36rnandcard14genemutations AT zhengliyun casereportinfantilegeneralizedpustularpsoriasiswithil36rnandcard14genemutations AT panyulong casereportinfantilegeneralizedpustularpsoriasiswithil36rnandcard14genemutations AT liushengxiu casereportinfantilegeneralizedpustularpsoriasiswithil36rnandcard14genemutations |