中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (12): 1022-1023.doi: 10.35541/cjd.20190682

• 病例报告 • 上一篇    下一篇

先天性角化不良DKC1基因突变一例

桂琳玲1    孙桂莲2    张雅楠3    华凯云   谷一超3    伏利兵4    姚兴凤   黄金狮3   

  1. 1华中科技大学同济医学院附属武汉儿童医院新生儿外科  430016;2中国医科大学附属第一医院儿科,沈阳  110001;3首都医科大学附属北京儿童医院新生儿外科  国家儿童医学中心  100045;4首都医科大学附属北京儿童医院病理科  100045
  • 收稿日期:2019-06-21 修回日期:2020-01-25 发布日期:2020-12-02
  • 通讯作者: 黄金狮 E-mail:jsdr2002@126.com

A case of dyskeratosis congenita with a mutation in the DKC1 gene

Gui Linling1, Sun Guilian2, Zhang Ya′nan3, Hua Kaiyun3, Gu Yichao3, Fu Libing4, Yao Xingfeng4, Huang Jinshi3   

  1. 1Department of Neonatal Surgery, Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430016, China; 2Department of Pediatrics, The First Affiliated Hospital of China Medical University, Shenyang 110001, China; 3Department of Neonatal Surgery, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, China, Beijing 100045, China; 4Department of Pathology, Beijing Children′s Hospital, Capital Medical University, Beijing 100045, China
  • Received:2019-06-21 Revised:2020-01-25 Published:2020-12-02
  • Contact: Huang Jinshi E-mail:jsdr2002@126.com

摘要: 患儿男,7岁,因间断咳嗽、咳痰3年,吞咽困难9个月就诊于北京儿童医院。患儿4月龄时曾患肺炎,后每年患肺炎1 ~ 2次,患中耳炎1 ~ 2次。3年前行左眼白内障手术。2年前无明显诱因出现四肢关节伸侧苔藓样皮疹,无痛痒,应用糖皮质激素期间皮疹消退,停用后皮疹反复……

引用本文

桂琳玲 孙桂莲 张雅楠 华凯云 谷一超 伏利兵 姚兴凤 黄金狮. 先天性角化不良DKC1基因突变一例[J]. 中华皮肤科杂志, 2020,53(12):1022-1023. doi:10.35541/cjd.20190682

Gui Linling, Sun Guilian, Zhang Ya′nan, Hua Kaiyun, Gu Yichao, Fu Libing, Yao Xingfeng, Huang Jinshi. A case of dyskeratosis congenita with a mutation in the DKC1 gene[J]. Chinese Journal of Dermatology, 2020, 53(12): 1022-1023.doi:10.35541/cjd.20190682