Odontogenic tumours in a Chilean population: a retrospective study of 544 cases based on 2022 WHO classification

Background: Odontogenic tumours are infrequent lesions. Studies on the frequency of odontogenic tumours from Latin America are scarce. This work aimed to determine the relative frequency of odontogenic tumours in a Chilean population using the 2022 World Health Organization classification. Material and Methods: This is a case series retrospective study. We reviewed 35,530 samples from 1975 to 2022 from the Oral Pathology Referral Institute and the Pathological Anatomy Service, Faculty of Dentistry, University of Chile. We utilized the 2022 World Health Organization classification for histological typification. Results: According to 2022 World Health Organization classification, 544 odontogenic tumours were confirmed. The most frequent odontogenic tumours were: odontoma (n=241; 44.3%), ameloblastoma (n=109; 20.0%) and cemento-ossifying fibroma (n=71; 13.1%). Benign odontogenic tumours corresponded to 538 cases (98.9%) and malignant tumours were only six cases (1.1%). Conclusions: In our population, odontoma was the most frequent odontogenic tumour followed by ameloblastoma and cemento-ossifying fibroma. Malignant odontogenic tumours were very rare. The results of this study are similar to reports from America, but there are some differences concerning the data from Africa and Asia. (AU)

Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families.

INTRODUCTION: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition characterized by the development of odontogenic keratocyst (OKC), basal cell carcinomas and palmar-plantar pits among other conditions. Reports about Latin American population are scarce. OBJECTIVE: To analyze the clinical, radiographic, histopathologic and inherited features of odontogenic keratocyst and palmar pits in three Chilean families with nevoid basal cell carcinoma syndrome. MATERIAL AND METHODS: After histopathologic diagnosis of OKC, notified consent was requested and evaluation of the affected patients and their families was done. RESULTS: Two families appeared to have only one affected adolescent, and both of them were considered de novo cases. In the third family, three affected members participated in this study, with an autosomal dominant presentation. All affected patients had OKC and palmar pits. Basal cell carcinomas were present only among adult patients. All examined patients were from Latin American ethnic groups. CONCLUSIONS: Patients with NBCCS had single or multiple OKCs that were located more frequently in the mandibular area. One family had autosomal dominant inheritance and the other two families were de novo cases. None of the three teenage patients had basal cell carcinomas.

Tumor Odontogénico Adenomatoide Quístico, presentación inusual. Reporte de dos casos

RESUMEN: El tumor odontogénico adenomatoide es un tumor benigno, poco común, que corresponde al 2-7% de los tumores odontogénicos. Se presenta con mayor prevalencia en la segunda década de vida y se ubica preferentemente en maxilar anterior. Es una lesión encapsulada, no agresiva, de crecimiento lento, que puede pasar desapercibida durante años. Deriva del epitelio odontogénico, y se caracteriza histológicamente por células epiteliales dispuestas en nidos, remolinos o cordones con escaso tejido conjuntivo. Puede presentar estructuras canaliculares un patrón ductiforme, con calcificaciones y presenta cápsula. El presente estudio reporta dos casos, el primero es una mujer de 30 años y el segundo el de un hombre de 36 años, ambos con un tumor odontogénico adenomatoide ubicado en zona maxilar anterior derecha, asintomático, sin asociación con diente incluido y de presentación quística a nivel imagenológico e histopatológico. Se discuten características clínicas, radiográficas, histopatológicas y terapéuticas de los casos.

ABSTRACT: Adenomatoid odontogenic tumor is a benign, rare tumor that accounts for 2-7% of odontogenic tumors. It appears with greater prevalence in the second decade of life and is located preferentially in the anterior maxilla. It is a slow-growing, non-aggressive, encapsulated lesion that can go unnoticed for years. It is derived from the odontogenic epithelium, and is characterized histologically by epithelial cells arranged in nests, eddies, or cords with little connective tissue. It may have canalicular structures and a ductiform pattern, with calcifications and it has a capsule. The present study reports two cases, the first is a 30-year-old woman and the second is a 36-year-old man, both with an adenomatoid odontogenic tumor located in the right anterior maxillary area, asymptomatic, without association with an included tooth and cystic presentation at the imaging and histopathological levels. The clinical, radiographic, histopathological and therapeutic characteristics of the cases are discussed.

Carcinoma ameloblástico mandibular: un diagnóstico infrecuente y desafiante / Mandibular ameloblastic carcinoma: an infrequent and challenging diagnosis

El carcinoma ameloblástico es un tumor odontogénico epitelial maligno, infrecuente y de mal pronóstico. Histopatológicamente es una lesión que conserva un patrón de diferenciación ameloblastomatoso, pero presenta características citológicas de malignidad. Debido a su rareza, existe poca información sobre su comportamiento biológico, el cual es reconocido en la literatura por ser inespecífico y variable, ya que puede presentarse como una lesión con características compatibles con una lesión benigna o como una entidad patológica agresiva altamente maligna. Esto último ha supuesto una dificultad no solo en su diagnóstico, sino también en la planificación terapéutica. Se reporta un caso de un carcinoma ameloblástico mandibular en un paciente perteneciente a la séptima década de la vida, destacando sus características clínicas, imagenológicas e histológicas variables que permitieron llegar a un diagnóstico correcto. (AU)

Ameloblastic carcinoma is a rare, malignant epithelial odontogenic tumor with a poor prognosis. Histopathologically it preserves an ameloblastomatous differentiation pattern but shows cytological features of malignancy. Due to its rarity, there is limited information on its biological behavior, which is recognized in the literature for being nonspecific and variable, as it may present as a lesion with characteristics compatible with a benign lesion or as a highly malignant aggressive pathological entity. The latter has been a difficulty not only in its diagnosis but also in the therapeutical planning. This article reports a case of a mandibular ameloblastic carcinoma occurring in a patient in the seventh decade of life, highlighting its variable clinical, imaging and histological characteristics that allowed us to reach a definitive diagnosis. (AU)

Macroglosia en Amiloidosis Primaria como Clave Diagnostica: Reporte de un Caso

RESUMEN: Amiloidosis se refiere a un grupo de enfermedades caracterizadas por el deposito extracelular de proteínas insolubles llamadas amiloide. La presentación intraoral de amiloidosis con macroglosia como signo primario es una entidad extraña, la cual puede afectar la funcionalidad de los pacientes aparte de la patología subyacente. Reportamos el caso de una paciente femenina de 85 años sin antecedentes mórbidos que al examen físico presenta macroglosia. La biopsia del tejido afectado fue estudiada bajo inmunohistoquimíca con tinción rojo congo, asociada al análisis de laboratorio que consignó un aumento en el componente monoclonal de cadenas livianas lambda. Se diagnosticó como amiloidosis primaria (AL). Se considera fundamental el entrenamiento al odontólogo general para el diagnóstico precoz de estos signos clínicos, por la baja sobrevida de la amiloidosis y la probabilidad de patologías ocultas como mieloma múltiple, el cual está asociado en un 20 % con AL.

ABSTRACT: Amyloidosis groups a large set of diseases characterized by the deposit of an extracellular insoluble protein known as amyloid. Intraoral presentation of macroglossia induced by amyloidosis is a rare entity that can impair patient function and hide other pathological conditions. We report a case of an 85-year-old woman with no morbid background were the physical examination revealed macroglossia. Primary systemic amyloidosis (AL) definitive diagnosis was made after the tongue biopsy resulted positive under congo red histochemical staining, and serum immunoelectrophoresis had elevated levels for lambda light chains. Primary dental dentistry training on semiotics is imperative to diagnose early stages of hidden pathologies with low life expectancy such as AL, which in 20 % of cases are associated with life threatening diseases like multiple myeloma.

Amelogenin in calcified matrices of odontogenic cysts and odontogenic tumors: An immunohistochemical study.

BACKGROUND/PURPOSE: There are few studies comparing the expression of enamel proteins, such as amelogenin, and cytokeratins in cyst and odontogenic tumors like in ameloblastoma and odontogenic keratocyst, indicating that amelogenin could be a potential biomarker for the aggressiveness in the odontogenic tumors. The aim of this study was to evaluate if the expression of amelogenin, cytokeratin AE1/AE3 (CKAE1/AE3) and cytokeratin 14 (CK14) in cysts and odontogenic tumors with calcified matrices such as calcifying odontogenic cyst (COC), compound (CdO) and complex (CxO) odontomas, adenomatoid odontogenic tumor (AOT) and calcifying epithelial odontogenic tumor (CEOT) as an aggressiveness indicator. MATERIALS AND METHODS: Three COC, eight CxO, three CdO, twelve AOT, two CEOT and three dental germs were submitted to an immunohistochemistry panel of antibodies composed of amelogenin, CKAE1/AE3 and CK14. RESULTS: CKAE1/AE3 and CK14 was present in all odontogenic epithelia. The amelogenin protein was detected in prismatic and amorphous calcified matrices of epithelial origin belonging to CxO, CdO, AOT, COC and the tooth germs used as controls. On the other hand, the CEOT was the only tumor or cyst studied that did not present immunostaining for amelogenin in calcified matrices. CONCLUSION: Amelogenin was detected in pathologies with a low or absent recurrence rate and excellent prognosis. CEOT was the lesion of greater clinical aggressiveness which did not express amelogenin. The presence of amelogenin in calcified matrices of odontogenic arise could be an indicator of low aggressiveness.

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.

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

Abstract 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.

Manifestaciones maxilofaciales en una familia chilena con adenomatosis poliposa familiar / Maxillofacial manifestations in a Chilean family with familial adenomatous polyposis

RESUMEN: La Poliposis Adenomatosa Familiar (PAF) es un síndrome hereditario autosómico dominante causado por la mutación del gen APC. En su forma clásica se desarrollan más de 100 pólipos adenomatosos intestinales que progresan a cáncer colorrectal en casi el 100% de los casos no tratados. Dentro de las manifestaciones extracolónicas de PAF, se encuentran las maxilofaciales, como: osteomas y alteraciones dentales, que pueden preceder por años al desarrollo de poliposis colónica. A pesar de que en Chile hay estudios de PAF y cáncer de colon, son escasos los reportes de manifestaciones maxilofaciales en estos pacientes. En la familia en estudio se encontró manifestaciones descritas previamente como: odontoma, osteomas y malformaciones de incisivos; adicionalmente tags mucosos que no se han asociado previamente al síndrome.

ABSTRACT: Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary syndrome caused by the mutation of the APC gene. In its classic form, more than 100 intestinal adenomatous polyps progress to colorectal cancer in almost 100% of cases if they are not treated. Within the extracolonic manifestations of FAP are the maxillofacial, such as: osteomas and dental alterations, which may precede the development of colonic polyposis. Although studies of colonic adenomatous polyposis and colon cancer exist in Chile, there are few reports of maxillofacial manifestations in these patients. In the family under study, previously described manifestations were found, such as: odontoma, osteomas and dental malformations; mucosal tags were also observed, with no previous association with the syndrom.

Efecto de miconazol sobre el recuento de levaduras en candidiasis asociada a estomatitis protésica / Effect of miconazole on the yeast count in candidiasis associated with denture stomatitis

RESUMEN: Introducción: Estomatitis Subprotésica, proceso inflamatorio crónico de la mucosa adyacente a prótesis removible. 71,4% de los sujetos con esta condición es portador de Candida y la severidad se relaciona con la presencia de esta levadura. Para su tratamiento se indica antimicóticos tópicos de la familia de polienos o de azoles. El propósito del estudio fue determinar el recuento de levaduras del género Candida en adultos mayores con candidiasis oral, antes y después de ser tratados con miconazol. Materiales y métodos: Se consignaron antecedentes sistémicos y locales en 32 adultos mayores con estomatitis subprotésica. Se determinó recuento de levaduras del género Candida en saliva, antes y después del tratamiento tópico con Miconazol 2%. Se aceptaron diferencias estadísticamente significativas con un error alfa igual o menor a 0.05%. Resultados: Los recuentos de levaduras del inicio del estudio disminuyeron significativamente a los días 8 y 15 después del tratamiento (mediana 6.800, 163, 60, respectivamente). 56,2% de los individuos presentó persistencia de levaduras después del tratamiento; 21,8% de ellos con recuentos superiores a 400 UFC/ml de saliva. Conclusiones: En el 56,2% de los individuos del estudio se observó persistencia de levaduras del género Candida luego de 2 semanas de tratamiento con miconazol al 2%.

ABSTRACT: Introduction: Denture stomatitis is a chronic inflammatory process of the mucosa adjacent to removable prosthesis. 71.4% of the subjects with this condition are carriers of Candida and the severity is related to the presence of this yeast. Topical antimycotics belonging to the polyene or azole family are indicated for its treatment. Efficacy of miconazole is reported to be from 80% to 100%, although resistance is described in isolates of Candida. The purpose of the study was to determine the count of Candida in older adults with oral candidiasis, before and after being treated with miconazole. Methodology: Systemic and local antecedents were recorded in 32 elderly adults with denture stomatitis. Differences in number of the colony forming units of Candida yeast, were determined before and after topical treatment with Miconazole 2%. Statistical significances were set at a value of p < 0.05. Results: Yeast counts at the start of the study significantly decreased 8 and 15 days after treatment (median 6,800, 163, 60, respectively). 56.2% of the subjects presented persistence of yeasts after treatment; 21.8% of them with counts higher than 400 CFU / ml saliva. Conclusion: In 56.2% of the study subjects, persistence of Candida yeasts was observed after 2 weeks of treatment with 2% miconazole.

Orofacial granulomatosis and diet therapy: a review of the literature and two clinical cases.

Orofacial granulomatosis is a nonspecific term that contains a wide variety of granulomatous entities, which share a clinical and histopathological presentation. It manifests as persistent or recurrent orofacial swelling, amongst other findings. Idiopathic orofacial granulomatosis, characterized by an absence of systemic granulomatous disease, is a diagnosis of exclusion. The main differential diagnosis is Crohn's disease. Its pathogenesis is unknown, however, it seems to be immune-mediated. Patch-test sensitivity to multiple allergens is well documented. Currently, therapeutic options consider restrictive diets, topical, intralesional, and systemic agents. First-line therapy is currently a matter of debate. We present a review of the value of diet therapy in this syndrome, along with two illustrative cases.

Solitary pigmented lesions in oral mucosa in Latin American children: A case series.

BACKGROUND: A variety of local and systemic processes caused exogenous and endogenous pigmentation of the oral mucosa. Solitary melanotic pigmentation is rare, hence the scarce number of studies in children and adolescents. METHODS: Clinical and histopathologic features of 10 Latin American children with solitary pigmented lesions of the oral mucosa were reviewed. RESULTS: The area most affected was the gingiva, followed by the palate. All lesions were flat and <1 cm in diameter. A brown color was observed in oral melanocytic macules and nevi. The exogenously pigmented lesion was bluish gray. Histopathology showed that the biopsied lesions corresponded to melanotic macules, junctional nevus, blue nevus, and exogenous pigmentation. CONCLUSION: Solitary pigmented lesions on the oral mucosa of children, from melanin pigment or exogenous pigment, may have a similar clinical presentation, but melanotic lesions such as oral melanotic macules and nevi can be differentiated from one another only with histopathologic examination.

Orofacial granulomatosis and diet therapy: a review of the literature and two clinical cases

Abstract: Orofacial granulomatosis is a nonspecific term that contains a wide variety of granulomatous entities, which share a clinical and histopathological presentation. It manifests as persistent or recurrent orofacial swelling, amongst other findings. Idiopathic orofacial granulomatosis, characterized by an absence of systemic granulomatous disease, is a diagnosis of exclusion. The main differential diagnosis is Crohn's disease. Its pathogenesis is unknown, however, it seems to be immune-mediated. Patch-test sensitivity to multiple allergens is well documented. Currently, therapeutic options consider restrictive diets, topical, intralesional, and systemic agents. First-line therapy is currently a matter of debate. We present a review of the value of diet therapy in this syndrome, along with two illustrative cases.

Evaluation of the effectiveness of a chamomile (Matricaria chamomilla) and linseed (Linum usitatissimum) saliva substitute in the relief of xerostomia in elders.

OBJECTIVE: The aim of this study was to determine the efficacy of a chamomile (Matricaria chamomilla) and linseed (Linum usitatissimum) saliva substitute in the relief of xerostomia in older participants. BACKGROUND: In elders, xerostomia is a permanent and progressive condition that significantly affects their quality of life. The treatment for progressive xerostomia is currently restricted to palliative measures, and saliva substitutes are indicated. A lack of evidence on the effectiveness of the saliva substitutes in the relief of symptoms of xerostomia has been reported. MATERIALS AND METHODS: Seventy-four elderly participants presenting xerostomia of diverse origin were selected. Herbal saliva substitute and carboxymethyl cellulose conventional saliva substitute were tested using a double-blind, randomised, cross-sectional clinical trial. RESULTS: Every participant of the study exhibited dry mouth sensation. A sensation of thick saliva was described in 59.5% of the participants. The need for liquid intake to swallow food, the sensation of difficulty in swallowing and the burning sensation in the tongue were observed in 54.1, 56.8 and 27.0% of the participants, respectively. The most prevalent diseases were hypertension, depressive symptoms and arthritis. Results of the clinical tests showed that the herbal saliva substitute produced a greater relief of dry mouth symptoms, thick saliva sensation and the sensation of difficulty in swallowing than the conventional substitute (Wilcoxon test p < 0.05). CONCLUSIONS: New chamomile- and linseed-based saliva substitute was effective in relieving xerostomia symptoms in older participants of this study.

Reporte preliminar sobre el efecto de un sustituto salival a base de manzanilla (Matricaria chamomilla) y linaza (Linum usitatissimum) en el alivio de la xerostomía en adultos mayores / Preliminary report on the efficacy of a chamomile (Matricaria chamomilla) and linseed (Linum usitatissimum) based saliva substitute formulated for the relief of xerostomia in the elderly

Introducción: La xerostomía es una condición crónica que afecta a un alto porcentaje de adultos mayores, que deben ser tratados paliativamente mediante el uso de sustitutos salivales; sin embargo estos productos no se encuentran disponibles en el mercado nacional. Objetivos Evaluar la eficacia de un nuevo sustituto salival a base de manzanilla y semillas de linaza en la disminución de la sintomatología asociada a xerostomía en individuos adultos mayores. Metodología Se incluyeron 34 voluntarios adultos mayores con xerostomía de diverso origen. Un nuevo sustituto salival a base de manzanilla y semillas de linaza y un sustituto convencional a base de carboximetilcelulosa fueron testados en un ensayo clínico aleatorizado, cruzado, con período de blanqueamiento. Resultados El 100 por ciento de los sujetos presentó sensación de boca seca, el 58,8 por ciento sensación de saliva espesa, el 52,9 por ciento necesitaba beber líquidos para deglutir los alimentos y tenía sensación de dificultad para tragar. La sensación de ardor lingual se registró en el 23,5 por ciento de los individuos. Las enfermedades más frecuentes en la muestra analizada fueron la hipertensión arterial y la artritis. Los resultados del ensayo clínico indican que el sustituto salival a base de manzanilla y semillas de linaza disminuye significativamente la sensación de boca seca y la sensación de saliva espesa (test de Wilcoxon p < 0,05). Conclusión El nuevo sustituto salival a base de manzanilla y semillas de linaza es efectivo en el alivio de la sintomatología asociada a xerostomía en adultos mayores, por lo que puede contribuir a mejorar la calidad de vida de la población afectada por esta condición.

Introduction: Xerostomia is a common chronic health condition that affects a great number of elderly people. Palliative treatment, such as salivary substitutes should be used, but these products are not accessible in the Chilean market. Objectives To evaluate the efficacy of a new Chamomile and linseed based saliva substitute in the reduction of xerostomía-associated symptomatology in elderly people. Methodology Forty elderly subjects presenting with xerostomia of various origins were selected. Chamomile and linseed based saliva substitute and a carboxymethylcellulose based conventional artificial saliva were tested using a double-blind, randomized, cross-over clinical trial with an intervining wash out period. Results All (100 percent) of subjects had a sensation of dry mouth, and 58.8 percent mentioned a sensation of thick saliva, 52.9 percent needed to drink liquids to swallow, and with a sensation of swallowing difficulty. Burning tongue sensation was recorded in 23.5 percent of the patients. The most frequent pathologies in the sample were arterial hypertension and arthritis. Results of the clinical tests showed that Chamomile and linseed based saliva substitute significantly relieves the sensation of dry mouth and the sensation of thick saliva (Wilcoxon test P < .05). Conclusion New chamomile and linseed based saliva substitute was effective in relieving xerostomia symptoms in elderly people, and could improve the quality of life of population affected by this condition.

Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.

OBJECTIVE: Amelogenesis imperfecta (AI) is a group of clinically and genetically heterogeneous inherited conditions, causing alterations in the structure of enamel and chemical composition of enamel matrix during development. The objective of this study was to compare the clinical, radiographic, histological and immunohistochemical phenotypes of subjects affected with hypocalcified AI from three Chilean families and identify causal mutations in the FAM83H gene. DESIGN: The diagnosis was made using clinical, radiographic, histological and genealogical data from the patients, who were evaluated according to the classification criteria by Witkop. PCR and Sanger sequencing of the complete coding sequence and surrounding intron regions of the FAM83H gene were conducted. The structural study of the affected teeth was performed with light microscopy, scanning electron microscopy and immunohistochemistry. RESULTS: The probands of the three families were diagnosed with hypocalcified AI, but in only one of them the missense variant p.Gly557Cys was identified. This variant was not present in the SNP database or in 100 healthy controls and segregated with the disease in the affected family. Using light microscopy, a normal prismatic structure was observed in all three cases. However, the ultrastructure was found to be affected in two of the cases, showing persistence of organic matter including amelogenins. CONCLUSIONS: These results suggest that FAM83H missense mutation reported in one of the families analyzed in this study might cause a phenotype of hypocalcified enamel more attenuated with retention of amelogenin.

Determination of susceptibility to sensitization to dental materials in atopic and non-atopic patients

Introduction: Some studies report that atopic patients have a greater frequency of delayed-type sensitization than non-atopic patients. Objective: To determine the influence of the atopic condition on delayed sensitization to dental materials. Design: cross-sectional study. Methods: Forty (40) atopic subjects and forty (40) non-atopic subjects, of both sexes, between 20 and 65 years of age were included. The determination of delayed sensitization to dental materials was performed using patch test. An oral exam was also carried out to check for lesions of the oral mucosa. Results: 61.25% of the patients were positive for delayed-type sensitization to one or more allergens, being palladium chloride (21.25%), ammoniated mercury (20%), benzoyl peroxide (12.5%) and amalgam (10%) the most frequent. The frequency of sensitization was 67.5% in the group of atopic patients, compared to 55% in the non atopic group (p>0.05). The materials with the greatest difference of sensitization in atopic compared to non-atopic patients were ammoniated mercury, benzoyl peroxide, amalgam and Bisphenol A Dimethacrylate(BIS-GMA) Conclusion: The atopic condition is not related to a higher frequency of delayed sensitization to a battery of dental materials (AU)

Evaluation of the efficacy of two mouthrinses formulated for the relief of xerostomia of diverse origin in adult subjects.

OBJECTIVE: To evaluate the efficacy of two new mouthrinses in the reduction of xerostomía-associated symptomatology. BACKGROUND: Xerostomia is a common chronic health condition that affects a great number of adults and significantly deteriorates quality of life, such that treatment is necessary. MATERIALS AND METHODS: Sixty-seven adult subjects of both sexes presenting xerostomia of diverse origin were selected. Mouthrinses were tested using a double-blind, randomized, cross-over clinical trial with an intervining wash out period. RESULTS: The 100% of subjects presented sensation of dry mouth, and 86% stated sensation of thick saliva. Burning tongue sensation, need to drink liquids to swallow and the sensation of swallowing difficulty were recorded in more than 50% of the patients. The most frequent pathologies in the sample were depression, arthritis, and arterial hypertension. Results of the clinical tests showed that mouthrinse 1 relieves sensation of dry mouth, need to drink liquids, and swallowing difficulty. In contrast, mouthrinse 2 relieves only latter two symptoms. Both rinses were more effective in relieving xerostomía-associated symptomatology in patients taking 3 or more medicines simultaneously. CONCLUSION: Both mouthrinses were effective in relieving various xerostomia symptoms, could be distributed at a low cost, thereby improving the quality of life of population affected.

A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families.

OBJECTIVE: The purpose of this study was to conduct a multidisciplinary analysis of a specific type of tooth enamel disturbance (amelogenesis imperfecta) affecting two Chilean families to obtain a precise diagnosis and to investigate possible underlying mutations. MATERIALS AND METHODS: Two non-related families affected with amelogenesis imperfecta were evaluated with clinical, radiographic and histopathological methods. Furthermore, pedigrees of both families were constructed and the presence of eight mutations in the enamelin gene (ENAM) and three mutations in the enamelysin gene (MMP-20) were investigated by PCR and direct sequencing. RESULTS: In the two affected patients, the dental malformation presented as soft and easily disintegrated enamel and exposed dark dentin. Neither of the affected individuals presented with a dental and skeletal open bite. Histologically, a high level of an organic matrix with prismatic organization was found. Genetic analysis indicated that the condition is autosomal recessive in one family and either autosomal recessive or due to a new mutation in the other family. Molecular mutational analysis revealed that none of the eight mutations previously described in the ENAM gene or the three mutations in the MMP-20 gene were present in the probands. CONCLUSION: A multidisciplinary analysis allowed for a diagnosis of hypocalcified amelogenesis imperfecta, Witkop type III, which was unrelated to previously described mutations in the ENAM or MMP-20 genes.

Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.

Amelogenesis imperfecta is a group of genetic conditions that affect the structure and clinical appearance of tooth enamel. The types (hypoplastic, hypocalcified, and hypomature) are correlated with defects in different stages of the process of enamel synthesis. Autosomal dominant, recessive, and X-linked types have been previously described. These disorders are considered clinically and genetically heterogeneous in etiology, involving a variety of genes, such as AMELX, ENAM, DLX3, FAM83H, MMP-20, KLK4, and WDR72. The mutations identified within these causal genes explain less than half of all cases of amelogenesis imperfecta. Most of the candidate and causal genes currently identified encode proteins involved in enamel synthesis. We think it is necessary to refocus the search for candidate genes using biochemical processes. This review provides theoretical evidence that the human SLC4A4 gene (sodium bicarbonate cotransporter) may be a new candidate gene.