García de Marcos José A, Dean-Ferrer Alicia, Arroyo Rodríguez Susana, Calderón-Polanco Javier, Alamillos Granados Francisco J, Poblet Enrique
Service of Oral and Maxillofacial Surgery, Albacete University Hospital Complex, Albacete, Spain.
Oral Maxillofac Surg. 2009 Dec;13(4):225-30. doi: 10.1007/s10006-009-0169-1.
Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, comprises five main pathological features: nevoid basal cell carcinomas, keratocystic odontogenic tumors, congenital skeletal anomalies, calcification of the falx cerebri, and point skin depressions on the palms and/or soles. The disease exhibits a dominant autosomal hereditary trait, with implication of the human homologue of the Drosophila segment polarity Patched (PTCH) gene. BCNS is diagnosed on the basis of clinical and radiological criteria and can be confirmed by genetic study. The patient prognosis is very good, with normal life expectancy in most cases.
The present study reports two cases of BCNS with the presence of maxillo-mandibular keratocystic odontogenic tumors.
One case was diagnosed according to clinical criteria, while the other required genetic confirmation that revealed a germ line mutation in exon 17 (c.2868delC), not previously described in the databases, which was considered to be responsible for the disease.
基底细胞痣综合征（BCNS），又称戈林-戈尔茨综合征，包括五个主要病理特征：痣样基底细胞癌、角化囊性牙源性肿瘤、先天性骨骼异常、大脑镰钙化以及手掌和/或脚底的点状皮肤凹陷。该疾病表现为常染色体显性遗传特征，涉及果蝇节段极性同源基因patched（PTCH）的人类同源物。BCNS根据临床和放射学标准进行诊断，并可通过基因研究得到证实。患者预后非常好，大多数情况下预期寿命正常。
本研究报告了两例伴有上颌-下颌角化囊性牙源性肿瘤的BCNS病例。
一例根据临床标准诊断，另一例需要基因确认，结果显示外显子17存在种系突变（c.2868delC），数据库中此前未描述过，该突变被认为是导致该疾病的原因。
