Guruprasad Yadavalli, Prabhu Prashanth R
Department of Oral and Maxillofacial Surgery, Government Dental College and Research Institute, Bangalore, Karnataka, India.
Natl J Maxillofac Surg. 2010 Jan;1(1):58-62. doi: 10.4103/0975-5950.69167.
Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, is caused due to a genetic alteration produced by a mutation in the "Patched" tumor suppressor gene, and it is inherited in a dominant autosomal way, though sporadic cases have been found. This syndrome shows a high penetrance and variable expressiveness. It is a multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falx cerebri. Together with these major features, a great number of processes considered as minor features have also been described. The latter include numerous skeletal, dermatology related and neurological anomalies, among others. In some occasions, the presence of very aggressive basocellular carcinomas has been described as well as other malignant neoplasia. Due to the importance of oral maxillofacial manifestations of this syndrome, it is fundamental to know its characteristics in order to make a diagnosis, to provide an early preventive treatment and to establish right genetic advice. We report a rare association of Gorlin-Goltz syndrome with situs oppositus.
戈林-戈尔茨综合征，也称为痣样基底细胞癌综合征，是由“patched”肿瘤抑制基因突变产生的基因改变引起的，它以常染色体显性方式遗传，不过也发现有散发病例。该综合征具有高外显率和可变表达性。它是一个多系统病变过程，其特征是存在多发性色素性基底细胞癌、颌骨角化囊肿、掌跖凹以及大脑镰钙化。除了这些主要特征外，还描述了许多被视为次要特征的病变过程。后者包括众多骨骼、皮肤相关和神经方面的异常等。在某些情况下，还描述了侵袭性很强的基底细胞癌以及其他恶性肿瘤的存在。鉴于该综合征口腔颌面部表现的重要性，了解其特征对于进行诊断、提供早期预防性治疗以及提供正确的遗传咨询至关重要。我们报告了一例戈林-戈尔茨综合征与内脏反位的罕见关联。
