de Santana Santos Thiago, Vajgel André, Martins-Filho Paulo Ricardo Saquete, de Albuquerque Maranhao Filho Almir Walter, De Holanda Vasconcellos Ricardo José, Frota Riedel, Filho José Rodrigues Laureano
Hospital Universitário, Universidade Federal de Sergipe, Rua Claudio Batista, Aracaju, Sergipe, Brazil.
Department of Oral and Maxillofacial Surgery, Pernambuco School of Dentistry, Camaragibe, Pernambuco, Brazil.
Craniomaxillofac Trauma Reconstr. 2016 Mar;9(1):94-104. doi: 10.1055/s-0035-1558454. Epub 2015 Aug 3.
We present a family case series with 10 individuals having nevoid basal cell carcinoma syndrome (NBCCS) with a 10-year follow-up. All articles published in the literature between 1967 and 2011 on familial Gorlin-Goltz syndrome in any language were surveyed to determine the mapping of cases per country of occurrence of this disease. All patients in the present series were presented with calcification of the falx cerebri, mild hypertelorism, and frontal bossing. Odontogenic keratocystic tumors, palmar and plantar pits, and multiple basal cell carcinomas occurred in 90, 40, and 20%, respectively, of the patients. One of the patients died of skin cancer. Diagnosis of odontogenic keratocyst tumors was confirmed by histopathological examination. NBCCS is a rare autosomal dominant cancer predisposition syndrome; it is important to recognize it when a patient has multiple odontogenic keratocyst tumors because life-long monitoring is essential for patient management.
我们展示了一个包含10例患有痣样基底细胞癌综合征（NBCCS）个体的家族病例系列，并进行了为期10年的随访。我们查阅了1967年至2011年间以任何语言发表在文献中的所有关于家族性戈林-戈尔茨综合征的文章，以确定该疾病在每个发生国家的病例分布情况。本系列中的所有患者均出现大脑镰钙化、轻度眼距增宽和额部隆起。牙源性角化囊性肿瘤、掌跖凹和多发性基底细胞癌分别出现在90%、40%和20%的患者中。其中一名患者死于皮肤癌。牙源性角化囊性肿瘤的诊断通过组织病理学检查得以证实。NBCCS是一种罕见的常染色体显性癌症易感综合征；当患者有多个牙源性角化囊性肿瘤时，识别该综合征很重要，因为终身监测对于患者管理至关重要。
