儿童角膜炎-鱼鳞病-耳聋综合征一例及GJB2基因突变检测

doi:10.35541/cjd.20200308

Chinese Journal of Dermatology ›› 2022, Vol. 55 ›› Issue (3): 256-258.doi: 10.35541/cjd.20200308

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Keratitis-ichthyosis-deafness syndrome in a child with mutations in the GJB2 gene

Yin Ruirui¹, Hao Di², Ji Yaofeng³, Cai Wenqian⁴, Xu Zhe¹, Ma Lin¹

¹Department of Dermatology, Beijing Children′s Hospital, Capital Medical University, Beijing 100045, China;²Department of Dermatology, Xuzhou Children′s Hospital, Xuzhou Medical University, Xuzhou 221006, Jiangsu, China; ³Department of Otolaryngology, Xuzhou Children′s Hospital, Xuzhou Medical University, Xuzhou 221006, Jiangsu, China; ⁴Department of Ophthalmology, Xuzhou Children′s Hospital, Xuzhou Medical University, Xuzhou 221006, Jiangsu, China

Received:2020-03-30 Revised:2020-10-08 Online:2022-03-15 Published:2022-03-03
Contact: Ma Lin E-mail:bch_maleen@aliyun.com

Abstract

Yin Ruirui, Hao Di, Ji Yaofeng, Cai Wenqian, Xu Zhe, Ma Lin. Keratitis-ichthyosis-deafness syndrome in a child with mutations in the GJB2 gene[J]. Chinese Journal of Dermatology, 2022, 55(3): 256-258.doi:10.35541/cjd.20200308

［1］	张锡宝, 曾抗, 温炬, 等. 角膜炎、鱼鳞病、耳聋综合征一例国内首报［J］. 中华皮肤科杂志, 2004,37（7）:387⁃389. doi: 10. 3760/j.issn:0412⁃4030.2004.07.002.
［2］	Srinivas M, Verselis VK, White TW. Human diseases associated with connexin mutations［J］. Biochim Biophys Acta Biomembr, 2018,1860（1）:192⁃201. doi: 10.1016/j.bbamem.2017.04.024.
［3］	邵莉梅, 王琳, 刘静, 等.先天性角膜炎-鱼鳞病-耳聋综合征GJB2基因突变分析［J］. 中国皮肤性病学杂志, 2020,34（2）:139⁃143. doi: 10.13735/j.cjdv.1001⁃7089.201905013.
［4］	Wolfe CM, Davis A, Shaath TS, et al. Visual impairment reversal with oral acitretin therapy in keratitis⁃ichthyosis⁃deafness （KID） syndrome［J］. JAAD Case Rep, 2017,3（6）:556⁃558. doi: 10.1016/ j.jdcr.2017.07.021.
［5］	Cheung AY, Patel S, Kurji KH, et al. Ocular surface stem cell transplantation for treatment of keratitis⁃ichthyosis⁃deafness syndrome［J］. Cornea, 2019,38（1）:123⁃126. doi: 10.1097/ICO.000 0000000001802.

Keratitis-ichthyosis-deafness syndrome in a child with mutations in the GJB2 gene

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