Cherubism. A case report.

Cherubism is a rare disorder with autosomal dominant inheritance. It is classified as a benign fibro-osseous lesions and may involve either facial bone. Its typical dentofacial deformities are caused by mutations in the SH3BP2 gene. The protein encoded by SH3BP2 had a significant role in the regulation of osteoblasts and osteoclasts. Accordingly with the radiological findings, differential diagnoses includes fibrous dysplasia, giant cell granuloma, osteosarcoma, juvenile ossifying fibroma, fibrous osteoma, odontogenic cyst and hyperparathyroidism. The aim of the present report is twofold. First, we examine the importance of the proper management of these cases. Second, we describe this rare syndrome with the goal of proposing suitable treatments.

Cytogenetics of jaw cysts - a pilot study.

The pathogenesis of cysts that arise in the jaws is still not certain, and the underlying mechanisms of epithelial proliferation are not fully understood. Cysts of the jaw may involve a reactive, inflammatory, or neoplastic process. Cytogenetics, the study of the number and structure of chromosomes, has provided valuable information about the diagnosis, prognosis, and targeted treatment in many cancers, including oral squamous cell carcinoma. Cytogenetics can also provide information about the possible aetiology or neoplastic potential of a lesion, though to our knowledge no studies of this technique have been used for cysts in the jaws. In this pilot study we used cytogenetics in a series of 10 cysts (3 radicular, 4 dentigerous, 2 of the nasopalatine duct, and 1 dermoid). In all cases we found normal karyotypes. Further work and larger numbers are needed for a definitive study, but we can hypothesise from this pilot study that these cysts do not have cytogenetic aberrations and so have no neoplastic potential.

Alterations of FHIT and P53 genes in keratocystic odontogenic tumor, dentigerous and radicular cyst.

BACKGROUND: The purpose of this study was to determine fragile histidine triad (FHIT) and p53 protein expression, and to analyze FHIT and p53 gene status in keratocystic odontogenic tumor (KOT), dentigerous cysts (DC) and radicular cysts (RC). METHODS: The methods used were immunohistochemistry and molecular genetic methods including loss of heterozygosity (LOH) and gene sequencing. RESULTS: FHIT protein expression was different among groups. Aberrant expression was the highest in KOT, then in RC and DC. p53 protein expression was different among groups. LOH in paraffin-embedded specimens was detected in 22.6% and 12.9% for FHIT and p53 respectively. Mutation of p53 gene at codon 237 was observed in only two specimens (one KOT and one DC). Of the six frozen specimens, three exhibited FHIT gene LOH (two RC and one KOT). KOT showed loss of exons 6-7 at FHIT locus and mutation at codon 237 at p53 locus, but this could be a chance result. CONCLUSION: Aberrations of FHIT and p53 genes/proteins could be considered markers responsible for the development of odontogenic lesions.

Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome.

BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant multisystem disorder with variable expression. NBCCS patients have variable susceptibility to development of basal cell carcinoma (BCC). Previous studies have shown that polymorphisms of some metabolic genes encoding the cytochrome p450 (CYP) and glutathione-S-transferase (GST) enzymes influenced the numbers of BCCs in sporadic BCC cases. OBJECTIVE: To determine whether allelic variants of these genes contribute to the variation in numbers of BCCs observed in NBCCS families. METHODS: Genotyping and analysis was carried out in 152 members (69 affected and 83 unaffected) of 13 families with NBCCS for seven polymorphisms in five metabolic genes including CYP1A1, CYP2D6, GSTM1, GSTP1, and GSTT1. RESULTS: GSTP1 Val105 and GSTP1 Val114 alleles were significantly associated with fewer BCC numbers (odds ratio (OR)105 = 0.55 (95% confidence interval, 0.35 to 0.88); OR114 = 0.20 (0.05 to 0.88)). The Val(105) allele showed a dose dependent effect (OR(Ile/Val) = 0.58 (0.34 to 0.88); OR(Val/Val) = 0.34 (0.14 to 0.78)). In addition, fewer jaw cysts were observed in carriers of the three p450 polymorphisms (CYP1A1m1, CYP1A1m2, and CYP2D6*4) (OR(CYP1A1m1) = 0.27 (0.12 to 0.58); OR(CYP1A1m2) = 0.25 (0.08 to 0.78); OR(CYP2D6*4) = 0.33 (0.18 to 0.60)). CONCLUSIONS: Genetic variants might contribute to the variation in numbers of BCCs and jaw cysts observed in NBCCS families.

Two male patients with nevoid basal cell carcinoma syndrome from Turkey.

Nevoid basal cell carcinoma syndrome, also known as Gorlin's syndrome, is a familial autosomal dominant syndrome characterized by multiple basal cell carcinomas, multiple odontogenic keratocysts of the jaws, and skeletal anomalies. Both tumors and malformations of the central nervous system occur with nevoid basal cell carcinoma. Medulloblastoma is the primary brain tumor most frequently associated with this syndrome. The authors report in this article two male patients with nevoid basal cell carcinoma syndrome: a 22-year-old male patient with multiple odontogenic keratocysts, who had medulloblastoma at two years and multiple basal cell carcinoma at 10 years of age, and a 15-year-old male patient with skeletal abnormalities and multiple odontogenic keratocysts in the jaws.

[Basocellular nevomatosis. Follow-up of 3 generations]. / Naevomatose baso-cellulaire. Suivi de trois générations.

We report on Gorlin-Goltz syndrome observed in 4 patients belonging to three generations of the same family. We present the clinical findings and emphasize recent genetic discoveries. We discuss the difficulty in following these patients and propose a series of simple explorations which can be helpful.

[Kinship studies in Gorlin-Goltz syndrome (basal cell nevus syndrome)]. / Sippenuntersuchungen beim Gorlin-Goltz-Syndrom (Basalzellnävus-Syndrom).

By means of an investigation on 7 patients from 3 families views are expressed on the problems of the basal cell-naevus-syndrome. The typical clinical signs appear preferentially and as first-symptoms in the jaw-bone as solitary and later developing multiple cysts. Because these first symptoms of the syndrome cause secondary, dentitio tarda (belated dentition) and displacement of the teeth, the dentist or the maxillo-facial-surgeon has a special responsibility for early diagnosis of this disease. Reference is made to the necessity of interdisciplinary cooperation and the ambulatory-care of the patients in the sense of a family registration and observation.

The nevoid basal cell carcinoma syndrome--Gorlin's syndrome. Multiple jaw cysts and skin cancer.

The nevoid basal cell carcinoma (NBS) syndrome with its characteristic multiple cysts of the jaws and skin cancer is of great interest to the dentist, the dermatologist and the oncologist. The dentist may have the opportunity of making an early diagnosis as the multiple cysts appear mostly in the ramus of the lower jaw. There is a great risk of recurrence as surgical removal is often very complicated. The disease is hereditary and is transmitted through females. The skin cancer can in most cases be treated surgically. It is essential that the family with the syndrome is investigated regularly and at periods of about six months.

Dental findings in osteogenesis imperfecta: II. Dysplastic and other developmental defects.

Orthopantomograms of 49 patients with osteogenesis imperfecta (OI) classified according to Sillence were examined for dysplastic dentin defects and other developmental abnormalities of the teeth. Thistle-tube-shaped pulps in the permanent teeth were observed in five patients. Four of them had pulp stones in several teeth. Apically extended pulp chambers were present in 3/49 patients, and the structure of the mandible was cystic in 1/49. These defects occurred in patients with type I or unclassifiable OI and were mainly not associated with type I dentinogenesis imperfecta (DI). The prevalence rates of invaginations (10.2%) and hypodontia of permanent teeth (18.4%) exceeded those in the normal population. The frequent developmental disturbances of the teeth in OI may be secondary to the connective tissue defect. The relation of the dysplastic defects other than type I DI to OI remains to be clarified.