| 痣样基底细胞癌综合征伴先天性左眼缺失1例 |
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| 引用本文： | 陈美余,陶识丞,陈国生,唐弈遥,麦华明. 痣样基底细胞癌综合征伴先天性左眼缺失1例[J]. 华西口腔医学杂志, 2022, 40(2): 240-245. DOI: 10.7518/hxkq.2022.02.018 |
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| 作者姓名： | 陈美余 陶识丞 陈国生 唐弈遥 麦华明 |
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| 作者单位： | 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 |
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| 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。
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| 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 |
| 收稿时间： | 2021-01-27 |
| 修稿时间： | 2021-11-12 |
Nevoid basal cell carcinoma syndrome with anophthalmia:a case report |
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| Chen Meiyu,Tao Shicheng,Chen Guosh-eng,Tang Yiyao,Mai Huaming. Nevoid basal cell carcinoma syndrome with anophthalmia:a case report[J]. West China journal of stomatology, 2022, 40(2): 240-245. DOI: 10.7518/hxkq.2022.02.018 |
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| Authors: | Chen Meiyu Tao Shicheng Chen Guosh-eng Tang Yiyao Mai Huaming |
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| Affiliation: | 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 |
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| 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. |
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| Keywords: | nevoid basal cell carcinoma syndrome odontogenic keratocyst basal cell carcinoma |
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