Nevoid basal cell carcinoma syndrome: a review of the literature

The nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin-Goltz Syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. The present report reviews current knowledge of this disorder that has profound relevance to specialists in Oral and Maxillo-Facial Surgery, Oral Medicine and Radiology.     

痣样基底细胞癌综合征1例报告

痣样基底细胞癌综合征是一种罕见的常染色体显性遗传疾病，以颌骨多发性角化囊肿、皮肤痣样基底细胞癌及多种骨骼异常为主要临床表现。作者报告1例典型病例．并对其临床、病理和治疗进行了讨论．     

痣样基底细胞癌综合征伴先天性左眼缺失1例

痣样基底细胞癌综合征（NBCCS）又称基底细胞痣综合征或Goltz-Gorlin综合征,是一种复杂且罕见的常染色体显性遗传疾病,大量研究文献证实PTCH1基因与NBCCS有关。本文报道1例NBCCS伴先天性左眼缺失的病例,并结合相关文献探讨以进一步了解该综合征。     

Nevoid basal cell carcinoma syndrome.

Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS). NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity. NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations.     

Nevoid basal cell carcinoma syndrome: Conservative dental treatment

This report illustrates a conservative approach in the treatment of keratocysts involving the lower left canine in a case of nevoid basal cell carcinoma syndrome in a l.0-year-old boy during 6 years' follow-up. The purpose of this report was to state the view of conservatism in the treatment of selected cases of keratocysts, based on close cooperation of the patient, orthodontist and oral surgeon. In this case, there are several keratocysts in both upper and lower jaws. Only the keratocysts associated with the lower left canine is considered to be conservatively treated in the presented case.     

Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review

Nevoid basal cell carcinoma syndrome (NBCCS), an autosomal dominant disorder with a high degree of penetrance and variable expressivity, is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. More than 100 minor criteria have been described, but 2 major and 1 minor criteria or 1 major and 3 minor criteria are necessary for the diagnosis. In this report we present an 8-year-old girl affected by NBCCS showing a uterus bicornis, a hitherto unreported association. However, further research is needed to confirm the association between NBCCS and mullerian fusion defects and to assess the hypothesis that focuses on chromosome 9 the mutant gene for NBCCS and fusion defects of female genital tract.     

Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses.

To understand the molecular biology of the nevoid basal cell carcinoma syndrome, the hedgehog signaling network is explained. The syndrome is caused by mutations in patched, a tumor suppressor gene. A single point mutation in one patched allele may be responsible for the malformations found in the syndrome. Inactivation of both patched alleles results in the formation of tumors and cysts (basal cell carcinomas, odontogenic keratocysts, and medulloblastomas). Several new hypotheses are proposed to account for a minority of nevoid basal cell carcinoma syndrome patients. Evidence is provided to suggest that these hypotheses deserve to be investigated.     

Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals

This article describes a pooled analysis of Korean individuals with nevoid basal cell carcinoma syndrome (NBCCS). The data upon which this review is based has been retrieved from published case reports in Korean dental and medical literature between the years 1981 to 2002. We found 33 subjects who met the diagnostic criteria for NBCCS. Relative frequencies of associated complications are presented and compared with those of the English literature. Odontogenic keratocyst (OKC) and palmar and/or plantar pits, and hypertelorism were the most frequently observed anomalies. OKCs are often the first signs of NBCCS and can be detected in patients younger than 20 years of age. However, the incidence and clinical manifestations of NBCCS in Korean individuals were found to be rather different from those of other countries. The relatively low frequency of basal cell carcinomas and falx calcification among the major criteria were two major differences. The frequencies of the minor criteria concur in general with the ranges given by some others. It is concluded that these differences may be attributed to genetic and geographic differences.     

Nevoid basal cell carcinoma syndrome associated with renal cysts and hypertension

A case of nevoid basal cell carcinoma syndrome with a coincidental finding is presented. In addition to the odontogenic cysts, hypertelorism, scapula deformity, rib fusion, dural calcification, and short fourth metacarpal bones of the syndrome, the patient had cystic disease of both kidneys with a large cyst of the right kidney. This case also illustrates that the presence of painful jaw lesions may lead the patient with this syndrome to seek treatment initially.     

Hyalinizing clear cell carcinoma: a case report and review of the literature

Hyalinizing clear cell carcinoma (HCCC) is a low-grade malignancy with infiltrative growth pattern. It affects mainly the minor salivary glands of adult women. The most frequent locations of this tumor are the palate and tongue. HCCC shows a poorly circumscribed, infiltrative, and essentially monomorphic population of clear cells with few mitoses and almost no nuclear or cellular pleomorphism. These cells form trabeculae, cords, islands, and/or nests, circumscribed by variable amounts of hyalinized fibrous bands with foci of myxohyaline stroma. S-100 protein, muscle-specific actin, smooth muscle actin, myosin, and calponin are consistently negative, which strongly indicates the absence of myoepithelial cell differentiation in this tumor. We present a case of HCCC affecting the upper vestibule in a 53-year-old man. The patient was treated by surgery and postoperative radiation and did not show recurrence or distant metastases 3 years after treatment. Discussed also are the clinical and pathologic features of this tumor along with the differential diagnosis and a literature review.     

痣样基底细胞癌综合征1例报道

痣样基底细胞癌综合征(nevoid basal cell carcinoma syndrome,NBCCS)是一种少见的常染色体显性遗传病,临床表现多达一百多种,主要临床表现为皮肤基底细胞癌,颌骨牙源角化囊性瘤（odontogenic keratocystic tumor, OKC）,手掌及脚底的过度角化、点状凹陷,颅骨异常,小脑镰钙化,眶距增宽,面部畸形,巨头巨脑畸形,唇腭裂等。本文报告1例痣样基底细胞癌综合征,并结合相关文献对该病的发病机制、发病率、临床表现、诊断、治疗方法等进行讨论。     

Intraoral acinic cell carcinoma: case report and review of the literature

Acinic cell carcinoma (ACC) is an uncommon salivary gland tumor that primarily affects the parotid gland. Involvement of minor salivary glands is rare. This report describes a 47-year-old man with an ACC on the left buccal mucosa. Histologically, the tumor was characterized by cells that resembled the serous cells. The patient was treated with surgical excision and showed no signs of recurrence two years later.     

Schwartz-Jampel syndrome: a review of the literature and case report

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite, cleft palate, as well as mandibular hypoplasia, the risk of dentigerous cysts, and impacted teeth. The use of general anesthesia in patients with SJS is dangerous, as there is a risk of malignant hyperthermia. The purpose of this paper is to describe a 3-year-old Chinese boy diagnosed with SJS at birth. His intra-oral examination revealed significant dental findings such as dentin defects with generalized attrition and hypodontia of the permanent dentition. Comprehensive dental treatment was provided at the same time as lower right limb surgery to reduce the potential complications with general anesthesia.