Department of Oral Pathology, Bauru School of Dentistry, University of São Paulo, Bauru, Brazil.
Head Face Med. 2011 Jan 25;7:2. doi: 10.1186/1746-160X-7-2.
The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.
Gorlin-Goltz 综合征,又称基底细胞痣综合征(NBCCS),是一种罕见的常染色体显性遗传多系统疾病,具有高外显率和可变表达性。其特征为颌骨角化囊性牙源性肿瘤(KCOT)、多发性基底细胞痣和骨骼畸形。这种综合征可以通过牙医在生命的第一个十年进行常规影像学检查早期诊断,因为 KCOT 通常是综合征的最早表现之一。本文报告了一例 10 岁 NBCCS 患者的病例,重点介绍了其临床和影像学表现。本研究强调了卫生专业人员在 NBCCS 的早期诊断和多学科预防措施中的重要性,以改善患者的预后。