中国麻风皮肤病杂志 ›› 2022, Vol. 38 ›› Issue (5): 319-321.doi: 10.12144/zgmfskin202205319

• 病例报告 • 上一篇    下一篇

白癜风伴矮小、耳聋、视力下降一例

闪莹1，2,常晓彤2,左亚刚1   

  1. 1中国医学科学院 北京协和医学院 北京协和医院皮肤科 协和医学转化中心，国家皮肤与免疫疾病临床医学研究中心，北京，100730；2河北北方学院，张家口，075000
  • 出版日期:2022-05-15 发布日期:2022-03-15
  • 通讯作者: 左亚刚，E-mail: zuoyagang@263.net

Vitiligo with pygmyism，nerve deafness and vision loss: a case report

SHAN Ying1,2, CHANG Xiaotong2, ZUO Yagang1   

  1. 1 Department of Dermatology, National Clinical Research Center for Cutaneous and Immunologic Diseases, Translational Medicine Center of Peking Union Medical College Hospital, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;2 Hebei North University, Zhangjiakou 075000, China
  • Online:2022-05-15 Published:2022-03-15
  • Contact: ZUO Yagang, E-mail: zuoyagang@263.net

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摘要： 报道1例白癜风伴矮小、耳聋、视力下降。患者，男，6岁，出生时即出现黄疸，1岁时发现发育延迟，4岁时出现听力减退，5岁时诊断为矮小，同年发生右上臂白斑。全外显子测序发现PTPRQ基因突变。皮肤科检查：右上臂屈侧多片色素减退斑。诊断：白癜风合并矮小、耳聋、视力下降。

关键词: 矮小, 白癜风, 耳聋, 视力下降

Abstract: We reported a case of vitiligo with pygmyism, nerve deafness and vision loss. A 6-year-old boy presented with a 6-year history of jaundice, developmental retardation occurring at age 1, hearing loss at age 4, pygmyism and vitiligo at age 5. Two mutations of c.1811 T>C and c.1973 T>C on the PTPRQ gene were found by whole exon sequencing. Dermatological examination showed multiple white hypopigmentation patches on the flexed side of the right upper arm. He was diagnosed with vitiligo complicated with pygmyism, nerve deafness and vision loss.

Key words: pygmyism, vitiligo, nerve deafness, visionlos