Tuberous sclerosis: literature review and case report

Tuberous sclerosis (TS) or Bourneville"s disease is a rare, multisystemic genetic disorder. It involves alterations to ectodermal and mesodermal cell differentiation and proliferation, causing benign hamartomatous tumors, neurofibromas and angiofibromas in the brain and other vital organs including the kidney, heart, eyes, lungs, skin and mucosa. It also affects the central nervous system and produces neurological dysfunctions such as seizures, mental retardation and behavior disorders. Tuberous (rootshaped) growths develop in the brain, and calcify over time, becoming hard and sclerotic, hence the name given to the disease. Although inheritance is autosomal dominant, 60-70% of cases occur through spontaneous mutations. The disease is related to some mutations or alterations in two genes, named TSC1 and TSC2. Discovered in 1997, TSC1 is located on chromosome 9q34 and produces a protein called hamartin. TSC2, discovered in 1993, is located on chromosome 16p13 and produces a protein called tuberin. The prevalence of the disease is 1/6000-10,000 live newborns, and it is estimated that there are 1-2 million sufferers worldwide. This paper presents a literature review and a family case report of a mother and two of her daughters with oral features of TS

Benign fibro-osseous lesions of the maxillas: analysis of 11 cases

Introduction: A study is made of the principal characteristics of the oral lesions biopsied in our Service of Oral Surgery and histologically diagnosed as corresponding to fibro-osseous lesions of the maxillas. Patients and methods: A retrospective review was made of all the biopsies made in a Service of Oral Surgery between 1996 and 2003. The reason for consultation was analyzed, along with patient age, sex, clinical and radiological characteristics, tentative diagnosis, histological diagnosis and treatment provided. Results: A total of 1238 biopsies were performed during the study period. Of these, only 11 corresponded to benign fibro-osseous lesions (7 women and 4 men). The mean patient age was 44 years (range 19-72 years). The most frequent location was the mandible (8 of the cases). In 7 patients the lesions constituted casual radiological findings; 4 presented bulging of the vestibular cortical bone, though only one of them reported pain. The histological diagnoses comprised 7 cemento-ossifying fibromas and 4 fibrous dysplasias. In 9 cases surgical resection was carried out, while in one case an incisional biopsy was performed, and in the remaining case curettage was decided. Discussion: These lesions are more frequent in women than in men, and the age at presentation is variable. In terms of lesion location, fibrous dysplasia is more common in the upper maxilla, while cemento-ossifying fibroma is more frequently found in the mandible. The diagnosis of such lesions is established upon contrasting the data obtained from the anamnesis, physical examination, the radiological characteristics, the intraoperative findings and the histological study, since both disorders have similar clinical and histological features- despite the fact that they constitute distinct disease conditions.

Central odontogenic fibroma: retrospective study of 8 clinical cases

Introduction and Objectives: The central odontogenic fibroma (COF) is a benign odontogenic tumour derived from the dental mesenchymal tissues. It is a rare tumour and only 70 cases of it have been published. Bearing in mind the rareness of the tumour, 8 new cases of central odontogenic fibroma have been found by analyzing the clinical, radiological and histopathological characteristics of COF. Patients and Method: A retrospective study was carried out on 3011 biopsies in the Service of Oral and Maxillofacial Surgery of the Dental Clinic of Barcelona University between January 1995 and March 2008. 85 odontogenic tumours were diagnosed of which 8 were central odontogenic fibroma. The radiological study was based on orthopantomographs, periapical and occlusal radiographies and computerised tomographics. The variables collected were: sex, age, clinical characteristics of the lesion, treatment received and possible reappearances of the tumour. Results: The central odontogenic fibroma represents 9.4% of all odontogenic tumours. Of the 8 cases, 5 were diagnosed in men and 3 in women. The average age was 19.9 years with an age range of 11 to 38 years. The most common location of the tumour was in the mandible. All cases were associated with unerupted teeth. Of the 8 tumours, 3 provoked rhizolysis of the adjacent teeth and 4 cases caused cortical bone expansion. 50% of the patients complained of pain associated to the lesion. No case of recurrence was recorded up to 2 years after the treatment. Conclusions: Central odontogenic fibromas usually evolve asymptomatically although they can manifest very aggressively provoking dental displacement and rhizolysis. Radiologically, COF manifest as a uni or multilocular radiotransparent image although they can be indistinguishable from other radiotransparent lesions making diagnosis more difficult. COF treatment involves conservative surgery as well as follow-up patient checks.

Tuberous sclerosis complex with oral manifestations: A case report and literature review

Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome produced by a number of genetic mutations. The disease is characterized by the development of benign tumors affecting different body systems. The most common oral manifestations of TSC are fibromas, gingival hyperplasia and enamel hypoplasia. Clinical Case: A 35-year-old woman diagnosed with TSC presented with a reactive fibroma of considerable size and rapid growth in the region of the right lower third molar. Discussion: In the present case the association of TSC with dental malpositioning gave rise to a rapidly evolving reactive fibroma of considerable diameter. Few similar cases can be found in the literature. Patients with TSC present mutations of the TSC1 and TSC2 genes, which intervene in cell cycle regulation and are important for avoiding neoplastic processes. No studies have been found associating TSC with an increased risk of oral cancer, though it has been shown that the over-expression of TSC2 could exert an antitumor effect. Careful oral and dental hygiene, together with regular visits to the dentist, are needed for the prevention and early detection of any type of oral lesion. The renal, pulmonary and cardiac alterations often seen in TSC must be taken into account for the correct management of these patients.

Hemi-maxilectomia no tratamento de fibroma oral em cão : caso clínico

A cavidade oral é o quarto local mais afetado por neoplasias em cães e gatos, representando 3% em gatos e 6% em cães, podendo ser benignas ou malignas e de origem dental ou extradental. O objetivo do trabalho foi relatar o tratamento cirúrgico por hemi-maxilectomia parcial num cão de 10 anos de idade, da raça pastor alemão, atendido no Hospital Veterinário diagnosticado histopatologicamente por fibroma oral. Durante o exame físico foi observado um aumento de volume do tipo tumoral, no palato duro, estendendo-se desde o canino esquerdo até o primeiro molar, com tecido necrosado. Foram realizados hemograma, bioquímica sérica, urinálise, radiografia do tórax e biopsia. O tratamento cirúrgico instituído foi eficaz, pois após um ano não se observou qualquer sinal de recidiva tumoral.

Fibroma periférico odontogénico em cão : relato de caso

Os tumores odontogénicos são neoplasias derivadas da ectoderme ou dos componentes mesenquimais do periodonto. As lesões possuem características clínicas similares aos tumores odontogénicos, sendo a diferenciação histopatológica essencial para o diagnóstico. Existe controvérsia em relação aos nomes, as características clínicas e histopatológicas dos mesmos. Por outro lado, a maioria dos cirurgiões removem-nos sem exame histopatológico pré-cirúrgico. O objetivo do trabalho foi relatar um caso de fibroma periférico odontogénico (FPO) em um cão castrado, sem raça definida, 11 anos de idade. O paciente apresentava uma massa ao redor do segundo, terceiro e quarto dente pré-molar da maxila direita. Foi realizado o hemograma, bioquímica sérica, exame de urina e a biópsia da massa enviada para a histopatologia, sendo o diagnóstico pré-cirúrgico de fibroma periférico odontogénico. O tratamento foi cirúrgico, utilizando o bisturi elétrico. O presente relato de caso permitiu concluir que o exame histopatológico pré-cirúrgico é importante para o diagnóstico do tumor e a exérese total da massa tumoral é o tratamento de eleição.