Gigantiform cementoma in a child.

The objective of this report is to present an unusual case of a gigantiform cementoma manifesting with gross expansion of the maxilla in a 6-year-old black female. No history of similar lesions in the family of the patient was obtained. Radiographic examination revealed a well-circumscribed lobular radio-opaque mass surrounded by a radiolucent margin. The macroscopic specimen showed lobular mineralized masses with a ″ginger root″-like appearance. Microscopic examination showed a lobular calcified mass with a peripheral zone of fibropsammomatous tissue corresponding with the radiolucent margin. The differential diagnoses, which include osteoma, ossifying fibroma and cementoblastoma, are discussed.

Metastases to the oral cavity.

Metastatic spread to the oral cavity of a malignant neoplasm is a rare yet important sign of advanced systemic malignant disease. This manuscript briefly describes the metastatic process and highlights the most common neoplasms that metastasise to the oral cavity as well as their clinical and radiological presentations. The role of the patients' history in suspecting metastatic disease and the importance of a microscopic diagnosis is emphasised.

Solitary oral plexiform neurofibroma: review of literature and report of a case.

Plexiform neurofibroma (PN) is a rare, benign tumor of nerve sheath origin, which frequently manifests as part of neurofibromatosis type 1. The article presents a case of solitary PN in a 4-year-old girl, which manifested as a double lip and without systemic or familial involvement. A review of the literature on solitary PN in the oral soft tissue demonstrates the scarcity of such cases.

Adenomatoid odontogenic tumour: review of the literature and an analysis of 33 cases from South Africa.

The adenomatoid odontogenic tumour (AOT) is a benign lesion of odontogenic origin. It is a slow growing tumour that results in a painless expansion of the jaws. This is a retrospective review of the demographic, clinical and radiographic features of AOTs diagnosed in a black South African population over 20 years. Of the 746 odontogenic tumours diagnosed, 4% were AOTs. The patients' ages ranged from 9 to 37 years with a mean age of 15 years. The highest incidence was in the second decade of life (85%). The female to male ratio was 5.6:1. The maxilla was more commonly affected than the mandible in a ratio of 1.5:1. The sizes of the lesions ranged from 2 to 7cm, with 60% involving an entire quadrant. All were of the central follicular type and appeared as well-demarcated radiolucent lesions. The canine was the most common impacted tooth. The treatment of choice was enucleation of the lesion, with no recurrences being reported.

Enamel dysplasia with hamartomatous atypical follicular hyperplasia: review of the literature and report of a case.

This article documents an additional case of a rare syndrome, reported only in black persons in South Africa. It is characterised by hamartomatous atypical follicular hyperplasia with central odontogenic fibroma (WHO-type)-like features attached to multiple impacted teeth, and with generalized enamel dysplasia showing features of hypoplastic amelogenesis imperfecta. Other features associated with the syndrome, but not present in all reported cases, include open-bite malocclusion, gingival overgrowth, hypodontia, pulpal calcifications and aberrant root formation of the unerupted teeth. Our present case shows the additional feature of impacted supernumerary teeth. As we cannot find any reports in the literature of the occurrence of amelogenesis imperfecta-like enamel dysplasia associated with hamartomatous follicular hyperplasia showing the features of WHO-type central odontogenic fibroma, with or without the additional features mentioned above, we propose to name this syndrome Enamel Dysplasia with Hamartomatous atypical Follicular Hyperplasia (EDHFH) syndrome.

Enamel dysplasia with hamartomatous atypical follicular hyperplasia (EDHFH) syndrome: suggested pathogenic mechanisms.

The syndrome of enamel dysplasia with hamartomatous atypical follicular hyperplasia (EDHFH) is an unusual syndrome and is unique to black South Africans. Major criteria for the syndrome are enamel dysplasia with generalized amelogenesis imperfecta-like features and atypical hyperplastic dental follicles with microscopic features of central odontogenic fibroma WHO-type (follicle analogue) attached to the crowns of multiple impacted teeth. Minor features of some cases are anterior open-bite malocclusion, supernumerary teeth, pulpal calcification, aberrant roots with hypercementosis, and hypodontia. The pathogenic mechanisms that lead to the development of EDHFH are unknown. We speculate that faulty synthesis of enamel matrix proteins may interfere with enamel formation and play a role in the generalized enamel hypoplasia described in this syndrome. Alterations in inductive signalling by the odontogenic epithelium mediated by enamel matrix proteins may explain the development of the follicle analogues, the root hypercementosis and the presence of dysplastic cementum deposition juxtaposed to odontogenic epithelium in the gingival overgrowth. Thus, alterations in the function of enamel matrix protein function, may be the common denominator responsible for the development of the EDHFH phenotype.

Medial tongue cleft associated with intraoral hamartoma--case report and review of literature.

A newborn female was referred with the following clinical symptoms: median tongue cleft, palate cleft, ankyloglosson, sublingual intraoral hamartoma and palatal intraoral hamartoma. Magnetic resonance imaging showed a subcutaneous cyst overlying the manubrium sterni. Genetic investigation (chromosome analysis) showed no aberrations and/or variations. The quick growth of the intraoral hamartoma required an excision at the age of 3 months. Under general anaesthesia the intraoral hamartoma was excised and the median tongue cleft was closed. Median tongue clefts are reported to be only associated with orofacial digital syndromes type I, II, IV and VI. If the clinical appearance is described without any association to an orofacial syndrome, the Tessier 30 cleft definition could be used as the best explanation of the symptoms. This is the first description of a combination of tongue cleft, palate cleft, intraoral hamartoma and subcutaneous cyst overlying the manubrium sterni. The clinical symptoms of this patient can be described best as a mild form of an orofacial digital syndrome type II or variation of a Tessier cleft No. 30.

Intraorbital plexiform neurofibroma in an NF-1-negative patient.

A 52-year-old patient presented with an orbital swelling and exophthalmos that enlarged over a period of about 40 years. The clinical examination showed massive exophthalmos and ptosis of the right eye without diplopia. The radiological investigation (MRI, CT and ultrasound) showed an unclear intraorbital mass with erosion of the orbital floor, infraorbital rim and orbital roof. The lesion was diagnosed histologically as a plexiform neurofibroma. The patient did not present any features of neurofibromatosis type 1 (NF-1) and molecular genetic analysis was unable to uncover a pathogenic sequence alteration in the NF-1 gene. Owing to the absence of clinical and ophthalmologic symptoms and the improbability of complete removal, the patient refused surgical intervention.

Necrotizing gingivitis of Kaposi sarcoma affected gingivae.

Necrotizing gingivitis and oral Kaposi sarcoma are common concomitants of HIV infection and both are regarded as indicators of HIV infection. Their simultaneous appearance in an HIV seropositive subject therefore, should be relatively common; but other reports documenting such cases could not be found. This article documents an uncommon case of necrotizing gingivitis superimposed on Kaposi sarcoma-affected gingiva, occurring in a patient with chronic periodontitis. The nature of necrotizing gingivitis and Kaposi sarcoma and the possible differential diagnosis of the periodontal attachment loss are discussed.

Pathogenesis of bone metastasis: a review.

BACKGROUND: Metastasic deposits from malignancies frequently lodge in the skeleton, including the jaw bones. METHOD: A review of the literature was performed in order to provide a coherent overview on the pathogenesis of bone metastasis. RESULTS: Bone metastasis follows complex molecular interactions that enable tumor cells to detach from the primary site, invade the extracellular matrix, intra-vasate, extra-vasate, and proliferate within bone. They induce local bone changes that could manifest radiologically as either osteolytic or radiodense. In addition to the direct bone changes, malignancies can elaborate mediators that are released in circulation, leading to generalized osteopenia. CONCLUSIONS: The spread of malignant neoplasms to bone is not a random process but rather a cascade of specific molecular events orchestrated through complex interactions between neoplastic cells and their environment.

The role of DNA ploidy and Ki-67 in the grading of mucoepidermoid carcinomas.

BACKGROUND: The grading of mucoepidermoid carcinomas (MEC) is based on subjective microscopic evaluation of the prevalence of cell types as well as features of atypia and aggressiveness. Our study was aimed at evaluating the role of high-resolution DNA flow cytometry and Ki-67 expression in the grading of MEC. MATERIALS AND METHODS: Fifty-five cases of intraoral and major salivary gland tumours, diagnosed as MEC, were retrieved and the grading system proposed by Brandwein et al. applied. RESULTS: Forty-nine per cent of our sample was graded as high, 35% as intermediate and 16% as low. Eighty-nine per cent of the high-grade MEC showed aneuploid DNA cell populations, while 88% of the diploid tumours were graded as intermediate or low. The mean Ki-67 positivity was significantly different between the high and intermediate grade tumours and between the aneuploid and diploid tumours. CONCLUSION: This study showed that high-resolution DNA flow cytometry of archival paraffin-embedded tissue is accurate in the grading of MEC and can be used with Ki-67 expression as an additional diagnostic tool.

The glandular odontogenic cyst: clinical and radiological features; review of the literature and report of nine cases.

Nine cases with glandular odontogenic cysts (GOC's) are presented bringing the total number reported in the literature to 54. Our study confirmed that most GOC's occur in the mandible, whereas maxillary lesions present only in the globulo-maxillary region. The radiological features were found to be non-distinctive and presented as well-defined radiolucencies with uni- and multilocular appearances. Most of the mandibular GOC's were unilocular, involved the symphysis region and only one extended into the ramus. All GOC's larger than 6 cm in diameter showed perforated margins radiologically. Our two multilocular GOC's demonstrated microscopic features supporting their infiltrative radiological appearance. The invasive clinical and radiological features of GOC support the notion of a possible histo-pathologic overlap between GOC and low-grade central mucoepidermoid carcinoma of the jaw.

Calcifying epithelial odontogenic tumor with intracranial extension: report of a case and review of the literature.

The calcifying epithelial odontogenic tumor (CEOT) is a rare benign neoplasm, possibly of stratum intermedium origin and occurring predominantly in the mandible of adults. The treatment varies, depending on its size, location, and histology. A case of an advanced CEOT arising in the maxilla with intracranial extension is reported. The report is supplemented by a review of the literature.

Maxillofacial hydatid cysts.

We report 2 cases of hydatid cysts occurring in the submandibular gland and buccal submucosa, respectively. Our first case occurred in the submandibular salivary gland of a 20-year-old woman and the second involved the buccal submucosa of a 6-year-old boy. Both diagnoses were made after the excision of the lesions. Both patients were evaluated after surgery, and both were followed up, but no other organs were involved.

Gigantiform melanotic neuroectodermal tumor of infancy.

Melanotic neuroectodermal tumor of infancy is a rare neoplasm of possibly neural crest origin, and it predominantly occurs in the premaxillas of infants less than 12 months old. Generally, the treatment of this benign pigmented lesion is conservative surgical excision. Long-term follow-up is imperative inasmuch as local recurrence and malignant transformation have been reported. A case with exceptional clinical features involving a 7-month-old child is presented.

Low-grade intraosseous osteosarcoma of the jaws.

Two cases of low-grade intraosseous osteosarcomas are reported, bringing the total number of such osteosarcomas in the jawbones documented in recent literature to six. Our first case involved the maxilla of a 69-year-old man and the second involved the mandible of an 18-year-old girl. In clinical and microscopic appearance, these neoplasms resemble benign proliferations in many respects. Subtle differences include cortical bone destruction, soft tissue infiltration, irregular bone production with foci of abundant osteoid, and mild cellular atypia. Complete removal at the first attempt is of paramount importance, inasmuch as a significant percentage of these neoplasms recur as high-grade osteosarcomas if they are inadequately treated.

Correlation between p53 gene mutation, p53 protein labeling and PCNA expression in oral squamous cell carcinomas.

BACKGROUND: The prevalence of oral squamous cell carcinoma (OSCC) among the Black community in South Africa is unacceptably high. The association between p53 protein, and PCNA overexpression and the presence of p53 gene mutations was evaluated. MATERIALS AND METHODS: One hundred and ten formalin-fixed, paraffin-embedded blocks of OSCC were selected for immunohistochemical studies for p53 protein and PCNA expression using the DO-7 and PC10 monoclonal antibodies, respectively. DNA was extracted from fifty-five blocks and exons 5 to 9 of the p53 gene were amplified with nested primers, thereafter sequencing was performed to confirm the presence of mutations detected by single stranded conformational polymorphism. RESULTS: Fifty-six cases (51%) showed p53 expression, while fourteen mutations (25%) were detected. A significant difference was found between the PCNA index in p53 positive and p53 negative tumors while the mean PCNA index for the tumors with p53 mutations was not significantly different from the tumors without mutations. CONCLUSIONS: No association between p53 protein overexpression and p53 gene mutations could be demonstrated.

Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.

Mutations in the p53 gene have been reported in head and neck carcinomas. We determined the p53 mutation profile in 55 oral squamous cell carcinomas (OSCCs) from a black African population sample. DNA from all the patients were investigated using PCR amplification of the p53 gene (exons 5-9), followed by heteroduplex single-stranded conformational polymorphism (HEX-SSCP) analysis on the PCR products. Direct sequencing was performed on cases where mutations were identified. The results showed mutations in 13 of 55 (23.6%) tumours. Eleven of 13 (85%) were single base pair substitutions (9 transitions and 2 transversions), and 2 were deletions. Two novel mutations were identified: a large 63-base pair deletion, and a single base pair substitution. The mutations in our study occurred outside the head and neck tumour hot spot region (codons 238-248).

Prevalence of EBV in oral squamous cell carcinomas in young patients.

BACKGROUND: Recent studies reported a difference in the age distribution of oral squamous cell carcinoma (OSCC) between Black and White South Africans with OSCC more prevalent in Black patients under the age of 50 compared to Whites. MATERIALS AND METHODS: Paraffin embedded blocks of OSCC were divided into two groups: one with a mean age of 56.2 years and the second group all younger than 40 years of age. A control group of 30 non-neoplastic intraoral lesions were selected. A standard PCR reaction was used to amplify the BAM H1 W-fragment of the EBV. RESULTS: EBV DNA was demonstrated in 11/45 (24%) cases from the first group and in 11/45 (24%) cases from the second group. EBV DNA was present in 11/30 (37%) cases from the control group. CONCLUSIONS: This study showed that the prevalence of EBV in OSCC was not influenced by the age of the patient.

Detection of human papillomavirus DNA with in situ hybridisation in oral squamous carcinoma in a rural black population.

Intra-oral carcinoma is the third most common malignancy among men in developing countries, and carries a high mortality rate, particularly in Africa, where patients often present initially with lesions at an advanced stage. The present study was undertaken to determine the prevalence of human papillomavirus (HPV) DNA in oral squamous carcinoma in the west of the Northern Transvaal, an area where a large number of new cases has been diagnosed over the past few years. Paraffin blocks from 66 cases (51 men, 15 women; mean age 58.7 years) of oral squamous carcinoma were randomly selected. Blocks contained samples of both tumour and adjacent normal epithelium. The presence of HPV antigen was established by means of immunocytochemistry and HPV DNA by in situ hybridisation with radiolabelled probes for HPV-6, 11, 16 and 18. Immunocytochemistry for viral antigen was negative in all the specimens. HPV-18 was detected in normal epithelium adjacent to the tumour in one case only. It appears from our study that HPV is of limited importance in oral squamous cell carcinogenesis in the population studied.