Meleda角化病1例致病基因鉴定及治疗

doi:10.35541/cjd.20220879

Chinese Journal of Dermatology ›› 2026, e20220879.doi: 10.35541/cjd.20220879

• Case Reports • Next Articles

Genetic testing and treatment in a case of Mal de Meleda

Bian Lu¹, Wang Yubo², Wang Sisi¹, Deng Lina¹, Li Min¹, Li Jianguo¹, Wang Jianbo¹

¹Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou 450003, China; ²College of Basic Medicine and Forensic Medicine, Henan University of Science and Technology, Luoyang 471000, China

Received:2022-12-07 Revised:2025-02-13 Online:2026-03-11 Published:2026-06-18
Contact: Wang Jianbo E-mail:wangjianbo1020@163.com
Supported by:
Henan Health Young and Middle?aged Discipline Leader Training Project

Abstract

Bian Lu, Wang Yubo, Wang Sisi, Deng Lina, Li Min, Li Jianguo, Wang Jianbo. Genetic testing and treatment in a case of Mal de Meleda[J]. Chinese Journal of Dermatology,2026,e20220879. doi:10.35541/cjd.20220879

References ［10］

［1］	王艳，汪慧君，林志淼,等. X连锁鱼鳞病并发Meleda角化病一例临床特征及SLURP⁃1和STS基因突变分析［J］. 中华皮肤科杂志，2017，50（11）:810⁃814. DOI:10.3760/cma.j.issn.0412⁃4030.2017.11.008.
［2］	Lyukmanova EN, Shulepko MA, Kudryavtsev D, et al. Human secreted Ly⁃6/uPAR Related Protein⁃1 （SLURP⁃1） is a selective allosteric antagonist of α7 nicotinic acetylcholine receptor［J］. PLoS One, 2016,11（2）:e0149733. DOI: 10.1371/journal.pone. 0149733.
［3］	Shulepko MA, Bychkov ML, Shenkarev ZO, et al. Biochemical basis of skin disease Mal de Meleda: SLURP⁃1 mutants differently affect keratinocyte proliferation and apoptosis［J］. J Invest Dermatol, 2021,141（9）:2229⁃2237. DOI: 10.1016/j.jid. 2021.01.035.
［4］	Zhang J, Cheng R, Ni C, et al. First Mal de Meleda report in Chinese Mainland: two families with a recurrent homozygous missense mutation in SLURP⁃1［J］. J Eur Acad Dermatol Venereol, 2016,30（5）:871⁃873. DOI: 10.1111/jdv.13038.
［5］	Kunisada M, Yamanishi K, Nishigori C. Japanese case of Mal de Meleda with a novel missense mutation of p.Thr52Ala in the second protruding finger of secreted Ly⁃6/uPAR⁃related protein 1［J］. J Dermatol, 2019,46（7）:e235⁃e237. DOI: 10.1111/1346⁃8138.14781.
［6］	Zhou W, Zhang Z, Zhang J, et al. First report of Mal de Meleda with pseudo⁃ainhum treated with gabapentin in a 17⁃year⁃old Chinese girl［J］. Australas J Dermatol, 2021,62（3）:e466⁃e468. DOI: 10.1111/ajd.13625.
［7］	Chimienti F, Hogg RC, Plantard L, et al. Identification of SLURP⁃1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda［J］. Hum Mol Genet, 2003,12（22）:3017⁃3024. DOI: 10.1093/hmg/ddg320.
［8］	Kudo M, Ishiura N, Tamura⁃Nakano M, et al. Abnormal keratinization and cutaneous inflammation in Mal de Meleda［J］. J Dermatol, 2020,47（5）:554⁃558. DOI: 10.1111/1346⁃8138. 15296.
［9］	李明, 周俐宏, 李邻峰. Janus激酶抑制剂在皮肤病治疗中的应用前景［J］. 中华皮肤科杂志, 2020,53（10）:845⁃848. DOI: 10.35541/cjd.20190564.
［10］	金欣星, 李思哲, 左亚刚. 胸腺基质淋巴细胞生成素在不同皮肤病中的作用机制研究［J］. 中华皮肤科杂志, 2021,54（10）:915⁃919. DOI: 10.35541/cjd.20191098.

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Genetic testing and treatment in a case of Mal de Meleda

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