条纹状掌跖角化病一家系DSG1基因突变分析

doi:10.35541/cjd.20240209

Chinese Journal of Dermatology ›› 2024, e20240209.doi: 10.35541/cjd.20240209

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Analysis of DSG1 gene mutations in a family with striate palmoplantar keratoderma

Han Hongmin, Han Jianwen

Department of Dermatology and Venereology, the Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010050, China

Received:2024-04-19 Revised:2024-09-09 Online:2024-01-05 Published:2024-11-04
Contact: Han Jianwen E-mail:hanjianwen1981@hotmail.com
Supported by:
National Natural Science Foundation of China （82260619）; Natural Science Foundation of Inner Mongolia （2022MS08005）; Scientific and Technological Innovative Research Team for Inner Mongolia Medical University of “Basic and Clinical Research of Psoriasis” （YKD2022TD030）

Abstract

Han Hongmin, Han Jianwen. Analysis of DSG1 gene mutations in a family with striate palmoplantar keratoderma[J]. Chinese Journal of Dermatology,2024,e20240209. doi:10.35541/cjd.20240209

References ［8］

［1］	Blecic AS, Pernin J, Jonca N, et al. Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism［J］. J Eur Acad Dermatol Venereol, 2021,35（6）:e385⁃e387. doi: 10.1111/jdv.17153.
［2］	Tursen U, Api H, Kaya TI, et al. Rapid healing of chronic leg ulcers during perilesional injections of granulocyte‐macrophage colony‐stimulating factor therapy in a patient with cutaneous polyarteritis nodosa［J］. J Eur Acad Dermatol Venereol, 2006,20（10）:1341⁃1343. doi: 10.1111/j.1468⁃3083.2006.01688.x.
［3］	Norgett EE, Lucke TW, Bowers B, et al. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin［J］. J Invest Dermatol, 2006,126（7）:1651⁃1654. doi: 10.1038/sj.jid.5700291.
［4］	Kawai K, Fukushige T, Sakanoue M, et al. Striate palmoplantar keratoderma［J］. J Dermatol, 2010,37（9）:854⁃856. doi: 10.1111/j.1346⁃8138.2010.00874.x.
［5］	Abi Zamer B, Mahfood M, Saleh B, et al. Novel mutation in the DSG1 gene causes autosomal⁃dominant striate palmoplantar keratoderma in a large Syrian family［J］. Ann Hum Genet, 2019,83（6）:472⁃476. doi: 10.1111/ahg.12335.
［6］	Hunt DM, Rickman L, Whittock NV, et al. Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma［J］. Eur J Hum Genet, 2001,9（3）:197⁃203. doi: 10.1038/sj.ejhg.5200605.
［7］	Nomura T, Mizuno O, Miyauchi T, et al. Striate palmoplantar keratoderma: report of a novel DSG1 mutation and atypical clinical manifestations［J］. J Dermatol Sci, 2015, 80（3）:223⁃225. doi: 10.1016/j.jdermsci.2015.10.004.
［8］	Has C, Jakob T, He Y, et al. Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies［J］. Br J Dermatol, 2015,172（1）:257⁃261. doi: 10.1111/bjd.13247.

Analysis of DSG1 gene mutations in a family with striate palmoplantar keratoderma

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