Gorlin-Goltz syndrome – Report of a case with review of literature

Snehanjan Sarangi , Basudev Mahato , Samir Mandal , Shreya S. Saha
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Abstract

Gorlin-Goltz syndrome (GGS), also known as the basal cell nevus syndrome (BCNS), or nevoid basal cell carcinoma syndrome (NBCCS), is a multisystem autosomal dominant disorder, characterized by the presence of numerous odontogenic keratocysts (OKC), along with variable cutaneous, dental, skeletal, muscular, neurological, sexual and ophthalmologic anomalies. Mostly mutation of the patched 1 (PTCH1) gene is responsible, while in a few instances germline mutation of suppressor of fused homolog (SUFU) gene is evident. Timely diagnosis and proper management of the various systemic abnormalities associated with NBCCS, is of utmost significance, owing to its susceptibility towards malignant transformation to basal cell carcinoma (BCC). Herein, we describe GGS in a 22 years old male patient, with relevant diagnostic aspects.
戈林-戈尔茨综合征--一例病例报告及文献综述
戈林-戈尔茨综合征(GGS)又称基底细胞痣综合征(BCNS)或痣样基底细胞癌综合征(NBCCS),是一种多系统常染色体显性遗传病,其特征是存在大量牙源性角化囊肿(OKC),同时伴有不同程度的皮肤、牙齿、骨骼、肌肉、神经、性和眼科异常。大多数情况下,病因是斑块 1(PTCH1)基因突变,少数情况下,融合同源基因抑制剂(SUFU)基因的种系突变也很明显。由于 NBCCS 易恶变为基底细胞癌 (BCC),因此及时诊断和妥善处理与 NBCCS 相关的各种系统异常至关重要。在此,我们描述了一名 22 岁男性患者的 GGS 以及相关诊断方面的情况。
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