痣样基底细胞癌综合征伴先天性左眼缺失1例  

Nevoid basal cell carcinoma syndrome with anophthalmia: a case report

作　　者：陈美余 陶识丞 陈国生 唐弈遥 麦华明[1] Chen Meiyu;Tao Shicheng;Chen Guosheng;Tang Yiyao;Mai Huaming(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)

机构地区：[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

出　　处：《华西口腔医学杂志》2022年第2期240-245,共6页West China Journal of Stomatology

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。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.

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 

分 类 号：R782[医药卫生—口腔医学]