中国麻风皮肤病杂志 ›› 2022, Vol. 38 ›› Issue (10): 717-719.doi: 10.12144/zgmfskin202210717

• 病例报告 • 上一篇    下一篇

MBTPS2基因新发突变致毛囊性鱼鳞病-脱发-畏光综合征一例

郑铭1,2,吕小岩1,2   

  1. 1 四川大学华西医院皮肤科，成都，610041；
    2 四川大学华西医院疾病分子网络前沿科学中心免疫炎症研究院皮肤病学研究室，成都，610041
  • 出版日期:2022-10-15 发布日期:2022-08-23

Ichthyosis follicularis, atrichia and photophobia syndrome caused by novel MBTPS2 mutation: a case report

ZHENG Ming1,2, LYU Xiaoyan1,2   

  1. 1 Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610041, China;
    2 Laboratory of Dermatology, Clinical Institute of Inflammation and Immunology, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu 610041, China
  • Online:2022-10-15 Published:2022-08-23

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摘要： 患者，男，4岁。脱发、全身丘疹伴畏光4年。基因检测示患儿MBTPS2基因有1个半合子突变，即c.3G>C(p.M1I)。母亲该位点杂合变异，父亲该位点无变异，诊断为毛囊性鱼鳞病-脱发-畏光综合征。

关键词: 毛囊性鱼鳞病-脱发-畏光综合征, MBTPS2基因, X连锁隐性遗传

Abstract: A 4-year-old male presented with atrichia, papules and photophobia for 4 years. Genetic test identified a hemizygotic mutation of c.3G>C(p.M1I). The heterozygous mutation was found in the patient's mother and there was no mutation was found in the father. The diagnosis of ichthyosis follicularis, atrichia and photophobia syndrome was made.

Key words: ichthyosis follicularis, atrichia and photophobia syndrome, MBTPS2, X-linked recessive inheritance