中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (2): 98-101.doi: 10.35541/cjd.20190263

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新发MBTPS2基因突变致毛囊性鱼鳞病、秃发、畏光综合征一例

李云玲1    郑惠文1    李寅1    王丽华2    李薇1    郭小璇1    黄春兰1    周沙1    吕中法3   

  1. 1浙江大学医学院附属儿童医院皮肤科，杭州  310052；2杭州大关上塘社区卫生服务中心皮肤科  310026；3浙江大学医学院附属第二医院皮肤科，杭州  310009
  • 收稿日期:2019-01-23 修回日期:2019-06-16 发布日期:2020-02-01
  • 通讯作者: 吕中法 E-mail:lzfskin@zju.edu.cn

A case of ichthyosis follicularis, atrichia and photophobia syndrome caused by a novel mutation in the MBTPS2 gene

Li Yunling1, Zheng Huiwen1, Li Yin1, Wang Lihua2, Li Wei1, Guo Xiaoxuan1, Huang Chunlan1, Zhou Sha1, Lyu Zhongfa3   

  1. 1Department of Dermatology, The Children′s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China; 2Department of Dermatology, Hangzhou Daguan Shangtang Community Health Service Center, Hangzhou 310026, China; 3Department of Dermatology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, China
  • Received:2019-01-23 Revised:2019-06-16 Published:2020-02-01
  • Contact: Lyu Zhongfa E-mail:lzfskin@zju.edu.cn

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摘要： 【摘要】 本文首次报道1例MBTPS2基因c.1165C>T突变致毛囊性鱼鳞病、秃发、畏光综合征。先证者主要临床表现为皮肤干燥、先天性无头发、毛囊角化性丘疹、畏光，伴癫痫，智力、运动发育落后。应用二代测序及一代测序验证显示，先证者和其母亲在MBTPS2基因第9外显子区域存在c.1165C>T（p.pro389Ser）突变。根据患儿临床表现和MBTPS2基因突变遗传学特点，确诊为毛囊性鱼鳞病、秃发、畏光综合征。

关键词: 鳞癣, 秃发, 畏光, 点突变, 毛囊性鱼鳞病、秃发、畏光综合征

Abstract: 【Abstract】 A case of ichthyosis follicularis, alopecia and photophobia syndrome caused by a novel mutation c.1165C>T in the membrane-bound transcription factor protease site 2 （MBTPS2） gene was firstly reported. The proband presented with dry skin, congenital hairlessness, follicular keratotic papules, photophobia, epilepsy, and mental and motor retardation. Next-generation and Sanger sequencing analysis confirmed that the proband and his mother both had a c.1165C>T （p.pro389Ser） mutation in exon 9 of the MBTPS2 gene. According to the clinical manifestations of the patient and genetic characteristics of the MBTPS2 gene mutation, the patient was diagnosed with ichthyosis follicularis, alopecia and photophobia syndrome.

Key words: Ichthyosis, Alopecia, Photophobia, Point mutation, Ichthyosis follicularis, atrichia and photophobia syndrome

引用本文

李云玲 郑慧文 李寅 王丽华 李薇 郭小璇 黄春兰 周沙 吕中法. 新发MBTPS2基因突变致毛囊性鱼鳞病、秃发、畏光综合征一例[J]. 中华皮肤科杂志, 2020,53(2):98-101. doi:10.35541/cjd.20190263

Li Yunling, Zheng Huiwen, Li Yin, Wang Lihua, Li Wei, Guo Xiaoxuan, Huang Chunlan, Zhou Sha, Lyu Zhongfa. A case of ichthyosis follicularis, atrichia and photophobia syndrome caused by a novel mutation in the MBTPS2 gene[J]. Chinese Journal of Dermatology, 2020, 53(2): 98-101.doi:10.35541/cjd.20190263