Tuberous sclerosis complex diagnosed from oral lesions.

CONTEXT: Tuberous sclerosis complex (TSC) is a genetic disease in the group known as neurocutaneous syndromes, with dominant autosomal inheritance. It is characterized by skin and adnexal lesions and central and peripheral nervous system tumors, with neurological and psychiatric findings. It may affect the heart, kidneys, eyes, face, bones, lungs, stomach and dentition. CASE REPORT: We present the case of a 66-year-old man with dermatological signs that included hypopigmented maculae, confetti-like lesions, shagreen plaque, angiofibromas on nasolabial folds, neck and back, nail dystrophy and periungual fibromas on fingers and toes. An electroencephalogram produced normal results, but magnetic resonance imaging showed a nodular image measuring 1.2 x 1.0 cm close to the Monro foramen, which was similar to cerebral parenchyma and compatible with a subependymal giant-cell astrocytoma. A conservative approach was taken, through control imaging examinations on the lesion for seven years, with absence of any expansive process or neurological symptoms. Abdominal ultrasonography revealed a solid, heterogenic and echogenic mass with a calcified focus, measuring 4.6 x 3.4 cm, in the rightkidney, compatible with angiomyolipoma. The patient was treated by means of complete nephrectomy because of malignant areas seen on histopathological examination and died one month after the procedure. This case report illustrates the importance of oral clinical findings such as dental enamel pits and angiofibromas in making an early diagnosis of TSC, with subsequent screening examinations, treatment and genetic counseling.

Tuberous sclerosis complex diagnosed from oral lesions / Complexo esclerose tuberosa diagnosticado a partir de lesoes orais

CONTEXT: Tuberous sclerosis complex (TSC) is a genetic disease in the group known as neurocutaneous syndromes, with dominant autosomal inheritance. It is characterized by skin and adnexal lesions and central and peripheral nervous system tumors, with neurological and psychiatric findings. It may affect the heart, kidneys, eyes, face, bones, lungs, stomach and dentition. CASE REPORT: We present the case of a 66-year-old man with dermatological signs that included hypopigmented maculae, confetti-like lesions, shagreen plaque, angiofibromas on nasolabial folds, neck and back, nail dystrophy and periungual fibromas on fingers and toes. An electroencephalogram produced normal results, but magnetic resonance imaging showed a nodular image measuring 1.2 x 1.0 cm close to the Monro foramen, which was similar to cerebral parenchyma and compatible with a subependymal giant-cell astrocytoma. A conservative approach was taken, through control imaging examinations on the lesion for seven years, with absence of any expansive process or neurological symptoms. Abdominal ultrasonography revealed a solid, heterogenic and echogenic mass with a calcified focus, measuring 4.6 x 3.4 cm, in the rightkidney, compatible with angiomyolipoma. The patient was treated by means of complete nephrectomy because of malignant areas seen on histopathological examination and died one month after the procedure. This case report illustrates the importance of oral clinical findings such as dental enamel pits and angiofibromas in making an early diagnosis of TSC, with subsequent screening examinations, treatment and genetic counseling. .

CONTEXTO: O complexo esclerose tuberosa é uma doença genética pertencente ao grupo das facomatoses, de herança autossômica dominante, caracterizada por lesões acometendo pele e anexos, além de tumores do sistema nervoso central e periférico, com presença de achados neurólogicos e psiquiátricos, podendo acometer coração, rins, olhos, dentes, mucosa oral e outros órgãos. RELATO DE CASO: Apresentamos o caso de um paciente do sexo masculino, 66 anos de idade, que apresentava diversos sinais dermatol ógicos, como máculas hipopigmentadas, lesões em confete, placas tipo shagreen, angiofibromas nas regiões cervical, nasolabial e dorsal, distrofias ungueais e fibromas nos dedos das mãos e pés. Embora o encefalograma não tenha mostrado alterações, a ressonância nuclear magnética apresentou imagem nodular com aspecto semelhante ao parênquima cerebral, medindo 1.2 x 1.0 cm e próxima ao forame de Monro, compatível com astrocitoma subependimário de células gigantes. Abordagem conservadora foi escolhida por meio de controle imaginológico da lesão por sete anos, com ausência de sintomas neurológicos ou processos expansivos. A ultrassonografia de abdômen total revelou massa medindo 4.6 x 3.4 cm, com áreas ecogênicas e heterogêneas, apresentando focos de calcificação no rim direito, com padrão semelhante ao de um angiomiolipoma. O paciente foi submetido a nefrectomia total, devido à presença de áreas de malignidade ao exame histopatológico, e evoluiu para óbito um mês após o procedimento. Este relato de caso ilustra a importância de achados clínicos orais, tais como lesões no esmalte dentário e angiofibromas, para o diagnóstico precoce dessa doença e posterior rastreamento, tratamento ...

Oral and neurocutaneous phenotypes of familial tuberous sclerosis.

OBJECTIVE: The objective of this study was to describe the pattern of inheritance and the clinical features in a large family with tuberous sclerosis (TS), and to focus on the general diagnosis after the initial oral examination. STUDY DESIGN: To characterize the pattern of inheritance and the clinical features, 61 familial members were systematically evaluated, including dermatologic, ophthalmologic, and orofacial examination. Imaging exams, such as abdomen ultrasonography, echocardiogram, fundoscopy, cranial cone-beam computerized tomography, and brain magnetic resonance, were performed. Hematoxylin and eosin stain and scanning electronic microscopy were performed to characterize TS-associated alterations in the teeth, nails, and hair. RESULTS: The pedigree of the family was constructed including the 4 last generations and revealed nonconsanguineous marriages and an autosomal dominant mode of TS transmission. We identified 13 family members affected by TS, with 6 of them completely fulfilling the diagnostic criteria of this disorder. Hypomelanotic macules in the skin, facial angiofibromas, and dental enamel pits were the most common features of affected patients. Central nervous system alterations were identified in 5 family members, whereas cardiac and renal alterations were found in 1 member each. CONCLUSION: We emphasize, in this study, the importance of oral findings such as dental enamel pits and gingival angiofibromas in the early diagnosis of familial TS which led to complete familial profile and pattern of inheritance establishment.

Ameloblastic fibro-odontoma: a conservative surgical approach.

Ameloblastic fibro-odontoma (AFO) is a rare benign mixed odontogenic tumor that occurs predominantly in children and young adults with no gender predilection and anatomic site, usually appearing as a painless swelling. We present a case of an 11-year-old non-Caucasian boy complaining of large painless isolated swelling in the right mandibular body. Intraoral examination revealed a tumoral mass with cortical bone expansion, covered by normal mucosa measuring 4.0 x 2.0 cm, located on both the lingual and buccal surfaces of the right body of the mandible, with displacement of the neighboring teeth. Panoramic radiography revealed an expansile, radiolucent and well circumscribed lesion with scattered foci of calcified material, which contained several radiopaque bodies of varying sizes and shapes. The provisional diagnoses were odontoma or AFO/ Biopsy confirmed AFO. The patient was treated with conservative surgery. After two years of follow-up, no alteration or recurrence was detected.

Aspectos da saúde bucal de adultos no município de Grão Mogol / Aspects of the oral health of adults in the city of Grão Mogol

O objetivo do estudo foi estimar a prevalência de achados bucais do município de Grão Mogol, em 2005, correlacionando-os com variáveis situacionais em adultos entre 20 e 59 anos (n = 735). Os resultados foram submetidos aos testes qui-quadrado, exato de Fisher e regressão logística binária, com intervalo de confiança de 95% (p < 0,05). As variáveis clínicas foram: uso e necessidade de prótese, edentulismo, problemas periodontais, lesões de mucosa bucal e necessidades de tratamento odontológico em geral. Critérios do SB Brasile do Inca, com adaptações, nortearam o estudo. Os resultados mostraram associações entre achados odontológicos de adultos e variáveis socioeconômicas.

Validação de questionário para avaliar conduta frente a lesões brancas orais / Validity of questionnaire for evaluating conduct as to white oral lesions

O objetivo deste trabalho foi validar um questionário para avaliação da conduta de cirurgiões-dentistas frente às lesões brancas de mucosa bucal nas unidades de atenção primária do município de Montes Claros, Minas Gerais, Brasil. O instrumento possui 34 questões abrangendo dados sócio-situacionais do profissional, seu conhecimento acerca das lesões, conduta e estrutura dos serviços de saúde. Este foi validado pela metodologia de teste-reteste e submetido ao teste estatístico Kappa. O questionário proposto demonstrou confiabilidade e reprodutibilidade devido à concordância estatisticamente significativa entre todas as questões nele contidas.