中华皮肤科杂志 ›› 2023, e20220294.doi: 10.35541/cjd.20220294

• 病例报告 • 上一篇    下一篇

KRT1基因新生突变导致的Curth-Macklin高起鱼鳞病1例

谢骏逸1,2    王雨蒙1    潘超兰1    李敏2    李明1   

  1. 1上海交通大学医学院附属新华医院皮肤科,上海  200092;2南京医科大学附属儿童医院皮肤科,南京  210019
    谢骏逸为上海交通大学医学院附属新华医院皮肤科进修医生,现在南京医科大学附属儿童医院皮肤科,南京  210019;李明现在复旦大学附属儿科医院皮肤科,上海  201102

  • 收稿日期:2022-04-29 修回日期:2023-05-20 发布日期:2023-11-30
  • 通讯作者: 李明 E-mail:mingli@fudan.edu.cn

A case of ichthyosis hystric Curth-Macklin type caused by a novel mutation in the KRT1 gene

Xie Junyi1,2, Wang Yumeng1, Pang Chaolan1, Li Min2, Li Ming1   

  1. 1Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; 2Department of Dermatology, Children′s Hospital of Nanjing Medical University, Nanjing 210019, China
    Xie Junyi was a refresher doctor in the Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, and is now working at the Department of Dermatology, Children′s Hospital of Nanjing Medical University, Nanjing 210019, China; Li Ming is now working at the Department of Dermatology, Children′s Hospital of Fudan University, Shanghai 201102, China
  • Received:2022-04-29 Revised:2023-05-20 Published:2023-11-30
  • Contact: Li Ming E-mail:mingli@fudan.edu.cn

摘要: 患者男,23岁。足月顺产,父母非近亲结婚。出生时全身潮红脱屑,未见水疱。逐渐出现全身皮肤角化过度,四肢关节增大、掌跖部位尤为明显。掌跖角化增厚皮肤常伴皲裂、渗血,自觉疼痛、瘙痒,有异味……

引用本文

谢骏逸 王雨蒙 潘超兰 李敏 李明. KRT1基因新生突变导致的Curth-Macklin高起鱼鳞病1例[J]. 中华皮肤科杂志, 2023,e20220294. doi:10.35541/cjd.20220294

Xie Junyi, Wang Yumeng, Pang Chaolan, Li Min, Li Ming. A case of ichthyosis hystric Curth-Macklin type caused by a novel mutation in the KRT1 gene[J]. Chinese Journal of Dermatology,2023,e20220294. doi:10.35541/cjd.20220294