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中华临床医师杂志(电子版) ›› 2017, Vol. 11 ›› Issue (23) : 2458 -2461. doi: 10.3877/cma.j.issn.1674-0785.2017.23.007

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综述

豹纹综合征研究进展
余时娟1,()   
  1. 1. 400014 重庆医科大学附属儿童医院皮肤科,儿童发育疾病研究教育部重点实验室,儿童发育重大疾病国家国际科技合作基地,儿科学重庆市重点实验室
  • 收稿日期:2017-11-09 出版日期:2017-12-01
  • 通信作者: 余时娟

Progress in research of leopard syndrome

Shijuan Yu1,()   

  1. 1. Dermatological Department, Children′s Hospital of Chongqing Medical University, Key Laboratory of Research on Children Developmental Diseases, Ministry of Education, National International Science and Technology Cooperation Base for Major Diseases of Child Development, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China
  • Received:2017-11-09 Published:2017-12-01
  • Corresponding author: Shijuan Yu
  • About author:
    Corresponding author: Yu Shijuan, Email:
引用本文:

余时娟. 豹纹综合征研究进展[J/OL]. 中华临床医师杂志(电子版), 2017, 11(23): 2458-2461.

Shijuan Yu. Progress in research of leopard syndrome[J/OL]. Chinese Journal of Clinicians(Electronic Edition), 2017, 11(23): 2458-2461.

豹纹综合征是罕见的常染色体显性遗传性疾病,主要由PTPN11RAF1BRAF基因突变致病,以多发性雀斑样痣、颅面畸形、心电传导缺陷、肥厚型心肌病、生殖器异常、生长发育迟缓和感音神经性耳聋为主要表现,缺乏特效治疗。本文总结了豹纹综合征的遗传学、皮损特征、系统表现、鉴别和愈后等相关研究报道的进展,提高临床医师对该病的认识,进行早期诊断和相关风险评估,改善预后。

Leopard syndrome is a rare autosomal dominant genetic disease caused by genetic mutations of PTPN11 RAF1, and BRAF. It is characterized by multiple lentigines, craniofacial deformity, electrocardiographic abnormalities, hypertrophic cardiomyopathy, abnormal genitalia, retardation of growth, and sensorineural deafness without particular treatment. This article summarizes the recent progress in the research of the genetics, skin characteristics, systemic manifestations, differential diagnosis, and prognosis of this disease to raise clinicians′ awareness about this genetic disorder to improve its early diagnosis, risk assessment, and prognosis.

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