Department of Oral and Maxillofacial Surgery, Mashhad University of Medical Sciences, Mashhad, Iran.
J Oral Pathol Med. 2010 Oct;39(9):677-80. doi: 10.1111/j.1600-0714.2010.00896.x. Epub 2010 Apr 29.
Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary autosomal dominant disorder with a wide range of clinical signs and symptoms. The major criteria are more than two basal cell carcinoma, keratocystic odontogenic tumor, three or more palmar pits, and calcification of the falx cerebri, spine and rib anomalies, and a family history of the syndrome.
This study reports 19 cases in an Iranian population and presents this rare syndrome as a differential diagnosis of skeletal anomalies. Between 1991 and 2008, the demographic, clinical, radiologic and histologic data of 19 patients with NBCCS were analyzed.
The average age at the time of diagnosis of NBCCS was 35.12 years. All patients had a minimum of two major criteria. The major criteria with the most frequency were the keratocysts odontogenic tumor (19 patients), and the average number was 6.2. Basal cell carcinoma (8 patients), and the average number was 14.7 calcification of the falx cerebri (17 patients), palmo-plantar pits (14 patients), mild hypertelorism (10 patients), and bilateral cleft lip and palate (1 patient). Only one patient was affected with an unusual case of NBCCS in a 30-year-old man with an associated squamous cell carcinoma of the maxillary sinus. Only two cases of this unusual association have been reported. This case is one of a large family including 14 NBCCS-affected patients.
结节性基底细胞癌综合征(NBCCS)是一种具有广泛临床体征和症状的遗传性常染色体显性疾病。主要标准是两个以上的基底细胞癌、角化囊肿性牙源性肿瘤、三个或更多的手掌凹痕,以及大脑镰、脊柱和肋骨异常的钙化,并有该综合征的家族史。
本研究报告了伊朗人群中的 19 例病例,并将这种罕见的综合征作为骨骼异常的鉴别诊断。1991 年至 2008 年间,对 19 例 NBCCS 患者的人口统计学、临床、放射学和组织学数据进行了分析。
NBCCS 的平均诊断年龄为 35.12 岁。所有患者至少有两个主要标准。最常见的主要标准是角化囊肿性牙源性肿瘤(19 例),平均数量为 6.2。基底细胞癌(8 例),平均数量为 14.7 大脑镰钙化(17 例)、手掌-足底凹痕(14 例)、轻度远视(10 例)和双侧唇裂和腭裂(1 例)。只有一名 30 岁的男性患者患有罕见的 NBCCS,伴有上颌窦鳞状细胞癌。这种罕见的关联仅报告了两例。该病例是一个包括 14 例 NBCCS 患者的大家族中的一例。