华西口腔医学杂志 ›› 2022, Vol. 40 ›› Issue (2): 240-245.doi: 10.7518/hxkq.2022.02.018

• 病例报告 • 上一篇    

痣样基底细胞癌综合征伴先天性左眼缺失1

陈美余(), 陶识丞, 陈国生, 唐弈遥, 麦华明()   

  1. 广西医科大学口腔医学院/附属口腔医院,广西口腔颌面修复与重建研究自治区级重点实验室,广西颅颌面畸形临床医学研究中心,南宁 530021
  • 收稿日期:2021-01-27 修回日期:2021-11-12 出版日期:2022-04-01 发布日期:2022-04-01
  • 通讯作者: 麦华明 E-mail:754819615@qq.com;huamingmai@126.com
  • 作者简介:陈美余,主治医师,硕士,E-mail:754819615@qq.com

Nevoid basal cell carcinoma syndrome with anophthalmia: a case report

Chen Meiyu(), Tao Shicheng, Chen Guosheng, Tang Yiyao, Mai Huaming.()   

  1. College & Hospital of Stomatology, Guangxi Medical University; Guangxi Key Laboratory of Oral and Maxillofacial Rehabilitation and Reconstruction; Guangxi Clinical Research Center for Craniofacial Deformity, Nanning 530021, China
  • Received:2021-01-27 Revised:2021-11-12 Online:2022-04-01 Published:2022-04-01
  • Contact: Mai Huaming. E-mail:754819615@qq.com;huamingmai@126.com

摘要:

痣样基底细胞癌综合征(NBCCS)又称基底细胞痣综合征或Goltz-Gorlin综合征,是一种复杂且罕见的常染色体显性遗传疾病,大量研究文献证实PTCH1基因与NBCCS有关。本文报道1例NBCCS伴先天性左眼缺失的病例,并结合相关文献探讨以进一步了解该综合征。

关键词: 痣样基底细胞癌综合征, 牙源性角化囊肿, 基底细胞癌

Abstract:

Nevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell nevus syndrome or Goltz-Gorlin syndrome, is a complex and rare autosomal dominant inherited disease. A large number of studies have confirmed that PTCH1 gene is associated with NBCCS. This study presents a case of NBCCS with anophthalmia of the left eye. It explores and delves deep into the syndrome while conducting a relevant literature review.

Key words: nevoid basal cell carcinoma syndrome, odontogenic keratocyst, basal cell carcinoma

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