Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta

Amelogenesis imperfecta (AI) is a group of enamel development disorders that alter the structure and chemical composition of the tissue. There is great variability in the clinical presentation; according to Witkop, AI can be categorized into 14 subtypes, which makes its diagnosis extremely complex. Objective: This study aimed to describe and determine the frequency of clinical and radiographic features and inheritance patterns found in 41 Chilean families diagnosed with diverse types of AI. Material and Methods: We analyzed the clinical records, photographs, pedigrees and radiographs of 121 individuals recruited between 2003 and 2016. All of the information was included in a database that was analyzed using the application Stata 14. Results: The 72 affected individuals had average age of 16 years, and no sex association with the presence of AI was found. The most frequent clinical subtypes were as follows: 43% hypomature, 25% hypoplastic, 21% hypomature/hypoplastic, 7% hypocalcified and 4% hypocalcified/hypoplastic. The number of severely affected teeth was 22, which occurred in the patients with hypocalcified and hypocalcified/hypoplasic AI who presented the highest number of damaged teeth. Caries and periodontal disease were found in 47 and 32% of the patients, respectively. Malocclusions were observed in 43% of the individuals with AI, with open bite being the most frequent. Radiographically, the thickness of the enamel decreased in 51% of the patients, and 80% showed decreased radiopacity of the enamel compared to that of dentin. Autosomal dominant inheritance pattern was found in 37% of the families with hypoplastic AI, and autosomal recessive pattern was present in 56% of the other clinical subtypes, but more frequently in those affected with hypomature and hypocalcified AI. Conclusion: Of the five clinical subtypes, autosomal recessive hypomature, autosomal dominant hypoplastic and autosomal recessive hypomature/hypoplastic AI were the most prevalent subtypes in this group

Análise de alterações genômicas por meio do sequenciamento do exoma completo em uma serie de casos de displasias epiteliais orais

As lesões clínicas associadas com o desenvolvimento do carcinoma oral de células escamosas, neoplasia maligna oral de maior importância, são conhecidas como desordens orais potencialmente malignas e, em muitos casos, correspondem histopatológicamente a displasias epiteliais orais. Atualmente é considerado a divisão destas em baixo e alto graus para melhorar a concordância entre os patologistas. As bases genômicas das displasias epiteliais orais são desconhecidas e não existe um método confiável de avaliação de risco de transformação maligna. Entendendo que mutações somáticas são responsáveis pela transformação da mucosa displásica a câncer, e que estas variações genômicas poderiam representar marcadores objetivos para determinar potencial de transformação maligna, realizou-se sequenciamento do exoma completo em dez amostras de displasia epitelial oral de pacientes brasileiros e chilenos. Foram identificadas 42 variantes capazes de produzir alterações de alto impacto nas estruturas aminoacídicas de 39 genes. Deste total de variantes, seis são novas e foram identificadas nos genes: FAM198B, CBWD5, PKD1L3, LRRC37A2, GAREM1 e GIPC1. Observou-se mais de uma variante de efeito deletéreo nos genes TP53I11 e CELA1 As amostras de displasias epiteliais de alto grau mostraram uma tendência a acumular maior número de variantes de sequência de efeitos deletéreos que aquelas de baixo grau. Foram identificadas variantes exclusivas em amostras de displasias de baixo e alto graus. A variante SNV de efeito deletério localizada no gene SIX1, considerado um oncogene, foi observada em todas as amostras. Variantes de secuencia nos genes OR6C1,GABRG3, KRT24, MRPL27 e LAMA5 foram identificados em todas as amostras de displasias de baixo grau, e nos genes: ACTN2, TP53I11, GLYCTK e CELA1 foram observadas em todas as amostras de displasias de alto grau. Sendo assim, estes genes são sugeridos como possíveis marcadores de displasias epiteliais orais. É importante realizar novos estudos com um maior número de amostras que possam confirmar ou refutar as informações obtidas no presente estudo.Clinical conditions associated with the development of oral squamous cell carcinoma, the most important oral cancer, are known as oral potentially malignant disorders and, in many cases, correspond to oral epithelial dysplasias. Nowadays, the division of these in low and high grades is considered to improve agreement among pathologists. The genetic basis of oral epithelial dysplasias is unknown and there is no reliable method of evaluating malignant transformation risk. We understand that somatic mutations are responsible for the transformation of the dysplastic mucosa to cancer. In addition, these genomic variations could represent objective markers to determine potential for malign transformation. In the present study, We performed whole exome sequencing in ten samples of oral epithelial dysplasia of Brazilian and Chilean patients. We identified 42 variants able to produce high-impact alterations in the amino acid structures of 39 genes. Of these total variants, six are new and have been identified in the genes: FAM198B, CBWD5, PKD1L3, LRRC37A2, GAREM1 and GIPC1. More than one deleterious effect variant was observed in the TP53I11 and CELA1 genes. High-grade epithelial dysplasia samples showed a tendency to accumulate more deleterious effect sequence variants than low-grade ones. Exclusive variants have been identified in low and high grade dysplasia samples. The deleterious effect variant SNV located on the SIX1 gene, considered an oncogene, was observed in all samples. Sequence variants in the OR6C1, GABRG3, KRT24, MRPL27 and LAMA5 genes were identified in all low-grade dysplasia samples, and in the genes: ACTN2, TP53I11, GLYCTK and CELA1 were observed in all high-grade dysplasia samples. Thus, these genes are suggested as possible markers of oral epithelial dysplasias. Further studies with more samples should be performed with to confirm or refute the information obtained in the present study.CAPE

Revista de Ciências Médicas e Biológicas

p.76-81Supernumerary roots consist of a developmental disturbance which can occur to any teeth, and knowledge about its occurrence is particularly important for the conduction of surgical or endodontic treatment of the affected tooth. In view of this reality, an attempt was made to determine the prevalence of supernumerary roots in lower premolars. The study was carried out with 200 periapical radiographs of the whole mouth, which totaled 800 teeth. This methodology was selected due to the possibility of analyzing radiographs of canines, premolars and lower molars using different ranges of horizontal angles, which enabled the identification of overlapped roots in the orthoradial incidence. The radiographs were submitted to the evaluation by an expert radiologist and the data underwent statistical analysis by means of sector graphs. The results showed that 14% (112) of the evaluated teeth presented supernumerary roots, of which 56% occurred in males and 44% in females. Concerning the eruption level, 61% were at the medium, 38% at the apical and 1% at the cervical 1/3 of the root. The most frequently affected tooth was the 1st premolar, which comprised 70% of the cases in comparison to 30% cases affecting the 2nd premolars. With regard to the type of occurrence, 67% were unilateral and 33% were bilateral while, of the latter, 82% occurred in the 1st lower premolars and 18% in the 2nd lower premolars.Salvado

Lateral periodontal cyst simulating a residual cyst

Introduction. Lateral periodontal cysts (LPC) are not frequent and the diagnosis is generally established by means of a routine radiological exploration. The aim of this article is to report a case of LPC on edentulous area. Case outline. A 59-year-old man was referred with an extensive radiolucent cystic lesion on edentulous area of anterior maxilla, with a clinical and radiographic diagnosis of residual cyst. The histopathologic features exhibited a diagnosis of LPC. Conclusion. This is the third case of LPC reported in the literature, which describes a different clinical and radiographic aspect than proposed in the literature

Proliferative verrucous leukoplakia mimicking oral lichen planus: case report and literature review

Abstract This report presents the clinical, microscopic and immunohistochemical aspects of a case of proliferative verrucous leukoplakia (PVL) mimicking oral lichen planus (OLP) in a 66-year-old woman. We also review the literature reporting cases of PVL mimicking OLP, where we found a higher prevalence in women who do not consume tobacco or alcohol. The initial manifestation of lichenoid areas was around the age of 59, with the diagnosis of PVL being established on average 6 years later, while malignant transformation occurred in 8 of the 22 cases at an average of 3.7 years after the final diagnosis of PVL. We emphasize the need for a close follow-up of any patient presenting white lesions of the oral mucosa. Lesions that are clinically and microscopically compatible with lichenoid reactions or OLP must be investigated and differentiated from PVL, which has a worse prognosis

Prevalência de raízes supranumerárias em pré-molares inferiores

Supernumerary roots consist of a developmental disturbance which can occur to any teeth, and knowledge about its occurrence is particularly important for the conduction of surgical or endodontic treatment of the affected tooth. In view of this reality, an attempt was made to determine the prevalence of supernumerary roots in lower premolars. The study was carried out with 200 periapical radiographs of the whole mouth, which totaled 800 teeth. This methodology was selected due to the possibility of analyzing radiographs of canines, premolars and lower molars using different ranges of horizontal angles, which enabled the identification of overlapped roots in the orthoradial incidence. The radiographs were submitted to the evaluation by an expert radiologist and the data underwent statistical analysis by means of sector graphs. The results showed that 14% (112) of the evaluated teeth presented supernumerary roots, of which 56% occurred in males and 44% in females. Concerning the eruption level, 61% were at the medium, 38% at the apical and 1% at the cervical 1/3 of the root. The most frequently affected tooth was the 1st premolar, which comprised 70% of the cases in comparison to 30% cases affecting the 2nd premolars. With regard to the type of occurrence, 67% were unilateral and 33% were bilateral while, of the latter, 82% occurred in the 1st lower premolars and 18% in the 2nd lower premolars.As raízes supranumerárias são uma alteração de desenvolvimento que pode envolver qualquer dente, e o conhecimento de sua ocorrência é particularmente importante para a realização de tratamento cirúrgico ou endodôntico da unidade afetada. Diante dessa realidade, procuramos determinar a prevalência de raízes supranumerárias em pré-molares inferiores. O estudo foi realizado com 200 exames radiográficos periapicais de toda a boca, perfazendo um total de 800 dentes. Optamos por essa metodologia devido à possibilidade de analisar radiografias de caninos, pré-molares e molares inferiores, tendo-se uma variação na angulação horizontal que permitiu a identificação de raízes sobrepostas na incidência ortorradial. As radiografias foram submetidas à avaliação de um radiologista experimentado e os dados levantados foram submetidos a tratamento estatístico através de gráfico de setores. Os resultados encontrados demonstram que 14% (112) dos dentes avaliados apresentaram raízes supranumerárias, nos quais 56% ocorreram no sexo masculino e 44% no feminino. Quanto ao nível de emergência, 61% foram no terço médio, 38% no apical e 1% no terço cervical da raiz. O dente mais envolvido foi o primeiro pré-molar, num total de 70% dos casos, contra 30% de segundos pré-molares. Em relação ao tipo de ocorrência, 67% foram unilaterais e 33% bilaterais, sendo que, desses últimos, 82% ocorreram em primeiros pré-molares e 18% nos segundos pré-molares inferiores

Revista de Ciências Médicas e Biológicas

Artigo original(p.76-81)Supernumerary roots consist of a developmental disturbance which can occur to any teeth, and knowledge about its occurrence is particularly important for the conduction of surgical or endodontic treatment of the affected tooth. In view of this reality, an attempt was made to determine the prevalence of supernumerary roots in lower premolars. The study was carried out with 200 periapical radiographs of the whole mouth, which totaled 800 teeth. This methodology was selected due to the possibility of analyzing radiographs of canines, premolars and lower molars using different ranges of horizontal angles, which enabled the identification of overlapped roots in the orthoradial incidence. The radiographs were submitted to the evaluation by an expert radiologist and the data underwent statistical analysis by means of sector graphs. The results showed that 14% (112) of the evaluated teeth presented supernumerary roots, of which 56% occurred in males and 44% in females. Concerning the eruption level, 61% were at the medium, 38% at the apical and 1% at the cervical 1/3 of the root. The most frequently affected tooth was the 1st premolar, which comprised 70% of the cases in comparison to 30% cases affecting the 2nd premolars. With regard to the type of occurrence, 67% were unilateral and 33% were bilateral while, of the latter, 82% occurred in the 1st lower premolars and 18% in the 2nd lower premolars.Salvado

ADHESIÓN DEL DISCO DE LA ATM - REPORTE DE UN CASO

Presentamos un caso de adhesión unilateral del disco de la articulación temporo-mandibular en un paciente de 51 años, sexo femenino, con queja de otalgia bilateral ocasional, de intensidad moderada, a lo largo de los últimos 10 años. La paciente no refirió dolor o ruidos articulares de ninguna naturaleza. Clínicamente, presentaba limitación de apertura bucal, con desvío hacia la izquierda sin corrección de la trayectoria al final del movimiento mandibular. La impresión diagnóstica clínica e imagenológica fue de desplazamiento anterior parcial con reducción del disco articular derecho; y aparente desplazamiento anterior parcial, adhesión del disco articular ("anchored disc phenomenon" - ADP) e hipomovilidad del cóndilo izquierdo.ABSTRACTTMJ disk adhesion - case report It is reported on a case of a 51-year-old female patient presenting TMJ (temporomandibular joint) disk adhesion on the left side and complaining of otalgia over the last 10 years. The patient did not complain of articular pain or clicking. Clinically, the patient presented jaw opening limitation, with deflection of the mandible to the left side without correction of the trajectory at the end of the jaw opening movement. Our diagnostic impression was partial anterior disk displacement with reduction, for the right side; and elusive partial anterior disk displacement, disk adhesion ("anchored disc phenomenon" - ADP), and hipomobility of the condyle, for the left side