基底细胞痣综合征伴杜氏肌营养不良症1例

doi:10.7518/hxkq.2021.02.017

华西口腔医学杂志 ›› 2021, Vol. 39 ›› Issue (2): 230-232.doi: 10.7518/hxkq.2021.02.017

基底细胞痣综合征伴杜氏肌营养不良症1例

田子仪(), 马文, 赵之月, 黎明()

昆明医科大学附属口腔医院口腔颌面外科，昆明 650000

收稿日期:2020-05-12 修回日期:2021-02-01 出版日期:2021-04-01 发布日期:2021-04-09
通讯作者: 黎明 E-mail:199712251@qq.com;1020513890@qq.com
作者简介:田子仪，硕士，E-mail：199712251@qq.com
基金资助:
云南省昆医联合项目面上项目(202001AY070001-250);昆明医科大学校级教研教改项目(2020-JY-Y-041)

Basal cell nevus syndrome with Duchenne muscular dystrophy: a case report

Tian Ziyi(), Ma Wen, Zhao Zhiyue, Li Ming()

Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, Kunming Medical University, Kunming 650000, China

Received:2020-05-12 Revised:2021-02-01 Online:2021-04-01 Published:2021-04-09
Contact: Li Ming E-mail:199712251@qq.com;1020513890@qq.com
Supported by:
General Project of Kunming-Medical Joint Project of Yunnan Province(202001AY070001-250);Kunming Medical University School-level Teaching Research and Teaching Reform Project(2020-JY-Y-041)

摘要/Abstract

摘要：

基底细胞痣综合征也称Gorlin-Goltz综合征，是一种罕见的常染色体显性遗传病。目前认为基底细胞痣综合征是PTCH1基因突变所致，发病率为1/256 000~1/57 000。本文报道1例7岁基底细胞痣综合征伴杜氏肌营养不良症患者。

关键词: 基底细胞痣综合征, 杜氏肌营养不良症, 牙源性角化囊肿

Abstract:

Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominant genetic disease. It is thought to be caused by a mutation in the PTCH1 gene, and its incidence is 1/57 000 to 1/256 000. The case of a 7-year-old patient with BCNS and Duchenne muscular dystrophy was reported in this paper.

Key words: basal cell nevus syndrome, Duchenne muscular dystrophy, odontogenic keratocyst

中图分类号:

R 782

田子仪, 马文, 赵之月, 黎明. 基底细胞痣综合征伴杜氏肌营养不良症1例[J]. 华西口腔医学杂志, 2021, 39(2): 230-232.

Tian Ziyi, Ma Wen, Zhao Zhiyue, Li Ming. Basal cell nevus syndrome with Duchenne muscular dystrophy: a case report[J]. West China Journal of Stomatology, 2021, 39(2): 230-232.

图/表 4

参考文献 8

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基底细胞痣综合征伴杜氏肌营养不良症1例

Basal cell nevus syndrome with Duchenne muscular dystrophy: a case report

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