儿童泛发性脓疱型银屑病伴发PLEC基因变异1例

doi:10.35541/cjd.20240282

Chinese Journal of Dermatology ›› 2025, Vol. 58 ›› Issue (6): 561-562.doi: 10.35541/cjd.20240282

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Generalized pustule psoriasis combined with PLEC gene variants in a child: a case report

Lin Yangyang¹, Liu Xinxin¹, Song Yuantao¹, Zhao Li², Li Qinfeng¹

¹Department of Dermatology, Tianjin Children′s Hospital, Tianjin 300134, China; ²Department of Pathology, Tianjin Children′s Hospital, Tianjin 300134, China

Received:2024-05-24 Revised:2025-05-20 Online:2025-06-15 Published:2025-06-03
Contact: Li Qinfeng E-mail:lyz20061217@sina.com
Supported by:
Science and Technology Program of Tianjin（22JCYBJC01420）

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Lin Yangyang, Liu Xinxin, Song Yuantao, Zhao Li, Li Qinfeng. Generalized pustule psoriasis combined with PLEC gene variants in a child: a case report[J]. Chinese Journal of Dermatology, 2025, 58(6): 561-562.doi:10.35541/cjd.20240282

References ［7］

［1］	中国医师协会皮肤科医师分会儿童学组,中华医学会皮肤性病学分会银屑病学组. 儿童脓疱型银屑病诊疗中国专家共识（2025版）［J］. 中华皮肤科杂志, 2025,58（4）:297⁃306. doi:10. 35541/cjd.20240714.
［2］	Marrakchi S, Guigue P, Renshaw BR, et al. Interleukin⁃36⁃receptor antagonist deficiency and generalized pustular psoriasis［J］. N Engl J Med, 2011,365（7）:620⁃628. doi: 10.1056/NEJMoa 1013068.
［3］	Berki DM, Liu L, Choon SE, et al. Activating CARD14 mutations are associated with generalized pustular psoriasis but rarely account for familial recurrence in psoriasis vulgaris［J］. J Invest Dermatol, 2015,135（12）:2964⁃2970. doi: 10.1038/jid.2015.288.
［4］	Setta⁃Kaffetzi N, Simpson MA, Navarini AA, et al. AP1S3 mutations are associated with pustular psoriasis and impaired Toll⁃like receptor 3 trafficking［J］. Am J Hum Genet, 2014,94（5）:790⁃797. doi: 10.1016/j.ajhg.2014.04.005.
［5］	Vahidnezhad H, Youssefian L, Harvey N, et al. Mutation update: the spectra of PLEC sequence variants and related plectinopathies［J］. Hum Mutat, 2022,43（12）:1706⁃1731. doi: 10.1002/humu. 24434.
［6］	Zheng J, Chen W, Gao Y, et al. Clinical analysis of generalized pustular psoriasis in Chinese patients: a retrospective study of 110 patients［J］. J Dermatol, 2021,48（9）:1336⁃1342. doi: 10. 1111/1346⁃8138.15958.
［7］	陈云刘, 王召阳, 向欣, 等. 司库奇尤单抗治疗儿童泛发性脓疱型银屑病2例［J］. 中华皮肤科杂志, 2023,56（9）:874⁃876. doi: 10.35541/cjd.20210214.

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Generalized pustule psoriasis combined with PLEC gene variants in a child: a case report

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