RESUMO
AIM: The aim of this case report is to emphasize the importance of an early diagnosis of Gardner's syndrome through the detection of lesions appearing in the oral and maxillofacial area as well as to present two cases of the disease. BACKGROUND: Gardner's syndrome is an autosomal dominant disease characterized by gastrointestinal polyps that develop in the colon as well as in the stomach and upper intestine, along with multiple osteomas, skin, and soft tissue tumors. Cutaneous findings may include desmoid tumors, epidermoid cysts, and other benign tumors. Early diagnosis and therapy of the disease are critical because polyps have a 100% risk of undergoing malignant transformation. Craniomaxillofacial manifestations (osteoma formation, tooth impaction, diffuse opacities in the skull, mandible and maxilla, scalp tumors) usually precede polyposis. REPORT: Case 1: Gardner's syndrome was diagnosed in a 25-year-old Caucasian man who was referred by his endodontist for evaluation of an uncommon radiographic image in the mandibular molar area. Further investigation revealed a familial adenomatous polyposis (FAP) complicated by adenocarcinoma of the colon. A colectomy and an ileorectal anastomosis were performed. Case 2: A 12-year-old Caucasian girl, who is a niece of the patient described in Case 1, presented with progressive difficulty with mouth opening but no complaints of digestive problems. Radiographic examination revealed multiple radiopacities in the maxilla, mandible left temporomandibular joint, and in the left mandibular angle. Multiple impacted teeth were present. A colonoscopy was suggested, but the patient's parents decided to continue the investigation and treatment with their own physician in their home town. SUMMARY: Since an early diagnosis is essential and general dental practitioners may be the first healthcare professionals to suspect the diagnosis, it is important for them to be familiar with the features of Gardner's syndrome.
Assuntos
Síndrome de Gardner/complicações , Síndrome de Gardner/diagnóstico , Neoplasias Mandibulares/etiologia , Neoplasias Maxilares/etiologia , Osteoma/etiologia , Adulto , Criança , Diagnóstico Precoce , Feminino , Humanos , Masculino , Neoplasias Mandibulares/diagnóstico por imagem , Neoplasias Maxilares/diagnóstico por imagem , Neoplasias Nasais/diagnóstico por imagem , Neoplasias Nasais/etiologia , Osteoma/diagnóstico por imagem , Radiografia Panorâmica , Couro Cabeludo , Neoplasias Cutâneas/etiologia , Neoplasias da Base do Crânio/diagnóstico por imagem , Neoplasias da Base do Crânio/etiologia , Dente Impactado/etiologiaRESUMO
OBJETIVO: Analisar os aspectos tomográficos dos tumores malignos da cavidade nasal. MATERIAIS E MÉTODOS: Foram estudados 18 pacientes - dez homens e oito mulheres - com tumor da cavidade nasal, os quais realizaram tomografia computadorizada da face. RESULTADOS: Dos tumores, seis eram casos de carcinoma epidermóide, três melanomas, dois carcinomas adenóides císticos, um adenocarcinoma polimórfico de baixo grau, um carcinoma indiferenciado, um carcinoma neuroendócrino, um linfoma não-Hodgkin, um rabdomiossarcoma alveolar, um sarcoma fusocelular grau II e um estesioneuroblastoma. As lesões foram mais freqüentes (p > 0,05) no lado esquerdo e no andar médio. CONCLUSÃO: Os carcinomas epidermóides apresentam grau de destruição correspondente ao seu volume, semelhante aos tumores epidermóides de outros sítios. O septo nasal foi acometido de maneira diferente, de acordo com os tipos histológicos.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Carcinoma de Células Escamosas , Cavidade Nasal/patologia , Neoplasias Nasais , Neoplasias Nasais/etiologia , Brasil , Estudos Transversais , Diagnóstico Diferencial , Neoplasias Nasais/patologia , Tomografia Computadorizada por Raios XRESUMO
Nasal T/NK-cell lymphomas are highly associated with Epstein-Barr virus (EBV). They are more frequent in Asia than in Western countries. In Central and South America there are few studies about nasal T/NK-cell lymphoma and they have shown a strong predominance of this phenotype in Native American descents, supporting the hypothesis of a racial predisposition for the disease. We studied the lymphomas involving midline facial region at a Brazilian institution. T/NK cell lymphomas (16/25) were more frequently found compared to B lymphomas (9 cases, all B large cell). T/NK cell lymphomas involved predominantly the nasal region. Histologically they showed angioinvasion and necrosis. All of them were positive for CD3 and CD56 and showed numerous tumor cells labeled by EBER-1. Although disease was localized in 61% at diagnosis, there was no tendency to cure. The racial distribution of patients with T/NK-cell phenotype was similar to that found in B-cell lymphomas. EBV was more frequently found in adenoids than in palatine tonsils. In inflammatory lesions of the nasal and palatal regions EBV was not found. In the present study the relative frequency of T/NK versus B cell sinonasal lymphomas was high and similar to that observed in other Latin American countries. However, there was not any racial association with T/NK-cell phenotype and the tumor showed an agressive behavior similar to that reported in Asia. The high frequency of EBV-positive lymphocytes in nasopharyngeal lymphoid tissue (adenoids) suggests that they could serve as a reservoir for the virus.
Assuntos
Linfoma de Células T/epidemiologia , Neoplasias Nasais/epidemiologia , População Branca/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Feminino , Predisposição Genética para Doença , Herpesvirus Humano 4/isolamento & purificação , Humanos , Imuno-Histoquímica , Linfoma de Células T/etiologia , Linfoma de Células T/genética , Linfoma de Células T/mortalidade , Linfoma de Células T/patologia , Linfoma de Células T/virologia , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Neoplasias Nasais/etiologia , Neoplasias Nasais/genética , Neoplasias Nasais/mortalidade , Neoplasias Nasais/patologia , Neoplasias Nasais/virologia , Fenótipo , Estudos Retrospectivos , Análise de SobrevidaAssuntos
Poluição do Ar/efeitos adversos , Linfoma não Hodgkin/etiologia , Cavidade Nasal , Neoplasias Nasais/etiologia , Neoplasias dos Seios Paranasais/etiologia , Humanos , Incidência , Linfoma não Hodgkin/epidemiologia , México/epidemiologia , Neoplasias Nasais/epidemiologia , Neoplasias dos Seios Paranasais/epidemiologia , Vigilância da População , Fatores de RiscoRESUMO
Air pollution is a serious health problem in major cities in Mexico. The concentrations of monitored criteria pollutants have been above the US National Ambient Air Quality Standards for the last decade. To determine whether the number of primary malignant nasal and paranasal neoplasms has increased, we surveyed 256 such cases admitted to a major adult oncology hospital located in metropolitan Mexico City (MMC) for the period from 1976-1997 and to a tertiary hospital in Monterrey, an industrial city, for the period from 1993-1998. The clinical histories and histopathologic material were reviewed, and a brief clinical summary was written for each case. In the MMC hospital the number of newly diagnosed nasal and paranasal neoplasms per year for the period from 1976-1986 averaged 5.1, whereas for the next 11 years it increased to 12.5. The maximal increase was observed in 1995-1997, with an average of 20.3 new cases per year (P = 0.0006). The predominant neoplasms in these series were non-Hodgkin's lymphoma, squamous cell carcinoma, melanoma, adenocarcinoma, Schneiderian carcinoma, and nasopharyngeal carcinoma. In the Monterrey hospital a 2-fold increase in the numbers of newly diagnosed nasal and paranasal neoplasms was recorded between 1993 and 1998. The predominant MMC neoplasm in this series, namely nasal T-cell/natural killer cell non-Hodgkin's lymphoma, is potentially Epstein-Barr virus related. Nasal and paranasal malignant neoplasms are generally rare. Environmental causative factors include exposure in industries such as nickel refining, leather, and wood furniture manufacturing. Although epidemiologic studies have not addressed the relationship between outdoor air pollution and sinonasal malignant neoplasms, there is strong evidence for the nasal and paranasal carcinogenic effect of occupational aerosol complex chemical mixtures. General practitioners and ear, nose, and throat physicians working in highly polluted cities should be aware of the clinical presentations of these patients. Identification of this apparent increase in sinonasal malignant neoplasms in two urban Mexican polluted cities warrants further mechanistic and epidemiologic studies.
Assuntos
Poluição do Ar/efeitos adversos , Cavidade Nasal , Neoplasias Nasais/epidemiologia , Neoplasias dos Seios Paranasais/epidemiologia , Adenocarcinoma/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , California/epidemiologia , Carcinoma/epidemiologia , Carcinoma de Células Escamosas/epidemiologia , Carcinoma de Células de Transição/epidemiologia , Feminino , Humanos , Linfoma não Hodgkin/epidemiologia , Masculino , Melanoma/epidemiologia , México/epidemiologia , Pessoa de Meia-Idade , Neoplasias Nasais/etiologia , Exposição Ocupacional , Neoplasias dos Seios Paranasais/etiologiaRESUMO
We describe 8 patients affected with Costello syndrome including an affected sib pair and review the literature on 29 previously reported cases. We emphasize an association with advanced parental age, which is consistent with autosomal dominant inheritance with germline mosaicism. The pathogenesis appears to involve metabolic dysfunction, with growth disturbance, storage disorder appearance, acanthosis nigricans, hypertrophic cardiomyopathy, and occasional abnormalities of glucose metabolism. Although the cause is currently unknown, Costello syndrome is interesting because of a potential genetic-metabolic etiology.
Assuntos
Nanismo/patologia , Fácies , Deficiência Intelectual/patologia , Acantose Nigricans/patologia , Acantose Nigricans/fisiopatologia , Adolescente , Adulto , Fatores Etários , Erros Inatos do Metabolismo dos Carboidratos/patologia , Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia , Cardiomiopatia Hipertrófica/patologia , Cardiomiopatia Hipertrófica/fisiopatologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Nanismo/diagnóstico , Nanismo/etiologia , Nanismo/genética , Nanismo/fisiopatologia , Feminino , Genes Dominantes/genética , Mutação em Linhagem Germinativa/genética , Glucose/metabolismo , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/etiologia , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Masculino , Doenças Metabólicas/patologia , Doenças Metabólicas/fisiopatologia , Mosaicismo/genética , Neoplasias Nasais/diagnóstico , Neoplasias Nasais/etiologia , Neoplasias Nasais/genética , Neoplasias Nasais/patologia , Neoplasias Nasais/fisiopatologia , Papiloma/diagnóstico , Papiloma/etiologia , Papiloma/genética , Papiloma/patologia , Papiloma/fisiopatologia , Pais , Fenótipo , SíndromeRESUMO
Comunicamos 5 pacientes con epiteliomas basocelulares consecutivos a cicatrices. Las formas clínicas fueron ulceradas en 4 de ellos, con histopatologías de epiteliomas basocelulares cordonados. El restante, noduloide, presentó un aspecto lobulado. Las cicatrices fueron consecutivas a: 2 casos por quemadura (metal incandescente y solvente), 2 a traumatismo y 1 post-vacunación antivarióla. El período entre el trauma y la aparición del tumor fue de 24 años promedio. Los 5 tumores se desarrollaron en áreas expuestas. Se realizó terapéutica en totalidad de los casos, con buenos resultados y seguimiento de más de 1 año, sin recaída
Assuntos
Humanos , Carcinoma Basocelular/etiologia , Cicatriz/complicações , Neoplasias Faciais/etiologia , Neoplasias Nasais/etiologia , Neoplasias Cutâneas/etiologia , Braço , Cicatriz/etiologia , Couro CabeludoRESUMO
Comunicamos 5 pacientes con epiteliomas basocelulares consecutivos a cicatrices. Las formas clínicas fueron ulceradas en 4 de ellos, con histopatologías de epiteliomas basocelulares cordonados. El restante, noduloide, presentó un aspecto lobulado. Las cicatrices fueron consecutivas a: 2 casos por quemadura (metal incandescente y solvente), 2 a traumatismo y 1 post-vacunación antivarióla. El período entre el trauma y la aparición del tumor fue de 24 años promedio. Los 5 tumores se desarrollaron en áreas expuestas. Se realizó terapéutica en totalidad de los casos, con buenos resultados y seguimiento de más de 1 año, sin recaída (AU)