严重皮炎、多重过敏和代谢消耗综合征患者DSG1杂合突变1例

doi:10.35541/cjd.20220893

Chinese Journal of Dermatology ›› 2025, e20220893.doi: 10.35541/cjd.20220893

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A case of heterozygous DSG1 mutation associated severe dermatitis, multiple allergies and metabolic wasting syndrome

Liu Yan, Li Xiaohong, Bai Feiying, He Yixuan, Yu Jianbin

Department of Dermatology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

Received:2022-12-15 Revised:2024-05-02 Online:2025-01-10 Published:2025-09-24
Contact: Li Xiaohong E-mail:judylee@zzu.edu.cn

Abstract

Liu Yan, Li Xiaohong, Bai Feiying, He Yixuan, Yu Jianbin. A case of heterozygous DSG1 mutation associated severe dermatitis, multiple allergies and metabolic wasting syndrome[J]. Chinese Journal of Dermatology,2025,e20220893. doi:10.35541/cjd.20220893

References ［10］

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［9］	Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology［J］. Genet Med, 2015,17（5）:405⁃424. doi: 10.1038/gim.2015.30.
［10］	Zimmer SE, Takeichi T, Conway DE, et al. Differential pathomechanisms of desmoglein 1 transmembrane domain mutations in skin disease［J］. J Invest Dermatol, 2022,142（2）:323⁃332.e8. doi: 10.1016/j.jid.2021.07.154.

A case of heterozygous DSG1 mutation associated severe dermatitis, multiple allergies and metabolic wasting syndrome

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