中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (4): 361-363.doi: 10.35541/cjd.20230585

• 病例报告 • 上一篇    下一篇

Carney综合征1例及PRKAR1A基因突变分析

周小慧   黄茂欣2    于建斌   刘莉娜3    葛亚萌1   

  1. 1郑州大学第一附属医院皮肤科,郑州  450052;2安徽医科大学第一附属医院皮肤科,合肥  230022;3郑州大学第一附属医院遗传与产前诊断中心,郑州  450052
  • 收稿日期:2023-10-12 修回日期:2024-09-11 发布日期:2025-04-03
  • 通讯作者: 于建斌;刘莉娜 E-mail:yjbdoctor@sina.com; liulina5965@163.com
  • 基金资助:
    郑州大学遗传性皮肤病研究生联合培养基地建设项目(YJSCXJD201908)

A case of Carney complex and mutation analysis of the PRKAR1A gene

Zhou Xiaohui1, Huang Maoxin2, Yu Jianbin1, Liu Lina3, Ge Yameng1   

  1. 1Department of Dermatology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; 2Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; 3Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
  • Received:2023-10-12 Revised:2024-09-11 Published:2025-04-03
  • Contact: Yu Jianbin; Liu Lina E-mail:yjbdoctor@sina.com; liulina5965@163.com
  • Supported by:
    Construction Project of Joint Training Base for Postgraduates in Genetic Skin Diseases of Zhengzhou University (YJSCXJD201908)

摘要: 先证者男,9岁,因复发性多发皮肤黏膜肿物6年余于2022年7月11日就诊。患儿自2岁起出现反复发作的皮肤黏膜多发肿物,手术切除后病理结果不一,分别为血管淋巴管瘤、牙源性囊肿、表皮样囊肿、息肉、纤维毛囊瘤、黏液瘤……

引用本文

周小慧 黄茂欣 于建斌 刘莉娜 葛亚萌. Carney综合征1例及PRKAR1A基因突变分析[J]. 中华皮肤科杂志, 2025,58(4):361-363. doi:10.35541/cjd.20230585

Zhou Xiaohui, Huang Maoxin, Yu Jianbin, Liu Lina, Ge Yameng. A case of Carney complex and mutation analysis of the PRKAR1A gene[J]. Chinese Journal of Dermatology, 2025, 58(4): 361-363.doi:10.35541/cjd.20230585