Uso de la pasta CDZ en dientes temporarios necrosados con una técnica mínimamente invasiva / Use of CDZ paste in necrotic primary teeth with a minimally invasive technique

Introducción: El tratamiento de los canales radiculares de molares temporales con pulpas infectadas ha sido ampliamente descrito y motivo de discusión por muchos años, no existiendo aún un consenso en cuanto al material de obturación. La pasta CTZ (cloranfenicol, tetraciclina y óxido de zinc más eugenol) acompañada de la Técnica de Endodoncia No Instrumentada ha mostrado una alta efectividad clínica y radiográfica para el tratamiento de molares temporales con compromiso pulpar. Se ha propuesto el reemplazo del componente Tetraciclina por Doxiciclina de la formulación, por las implicancias de un posible amelo-génesis imperfecta y la coloración en la corona de dicho componente. Objetivo. Evaluar la efectividad clínica de la pasta CDZ en el tratamiento endodóntico de dientes primarios necrosados con una técnica mínimamente invasiva. Metodología. Estudio de intervención en el que se incluyeron pacientes que presentaban dientes temporales con indicación de terapia pulpar y en quienes se utilizó la pasta CDZ. El éxito del tratamiento se midió por la desaparición de la sintomatología. Resultados. Se incluyeron en el estudio 76 pacientes entre 2 a 9 años. La eficacia del tratamiento con CDZ fue del 97,6% en 125 dientes. Conclusiones. Los hallazgos son comparables a los estudios que utilizaron el CTZ. Debido a las características biológicas del material, su bajo costo, fácil manipulación y excelentes resultados clínicos, se considera una opción en la terapia pulpar en dientes temporales, como una alternativa en el uso de programas de salud pública.

Introduction: Treatment of root canals of primary molars with infected pulps has been widely described and has been the subject of discussion for many years, and there is still no consensus regarding the filling material. The CTZ paste (chloramphenicol, tetracycline and zinc oxide plus eugenol) accompanied by the Non-Instrumented Endodontic Technique has shown high clinical and radiographic effectiveness for the treatment of primary molars with pulp involvement. The replacement of the Tetracycline component by Doxycycline of the formulation has been proposed, due to the implications of a possible amelogenesis imperfecta and the coloration in the crown of said component. Goal. To evaluate the clinical effectiveness of CDZ paste in the endodontic treatment of necrotic primary teeth with a minimally invasive technique. Methodology: Intervention study in which patients with temporary teeth with an indication for pulp therapy and in whom CDZ paste was used were included. Treatment success was measured by the disappearance of symptoms. Results. 76 patients between 2 and 9 years old were included in the study. The efficacy of CDZ treatment was 97.6% in 125 teeth. Conclusions: The findings are comparable to studies using CTZ. Due to the biological characteristics of the material, its low cost, easy handling and excellent clinical results, it is considered an option in pulp therapy in primary teeth, as an alternative in the use of public health programs.

Enfoque de Tratamiento de una Adolescente con Amelogénesis Imperfecta / Treatment Approach for an Adolescent with Amelogenesis Imperfecta

La amelogénesis imperfecta (AI) es un grupo de tras-tornos hereditarios, clínica y etiológicamente hete-rogéneos, derivados de mutaciones genéticas, que se caracterizan por anomalías cualitativas y cuanti-tativas del desarrollo del esmalte, pudiendo afectar la dentición primaria y/o permanente. El tratamiento del paciente con AI es complejo y multidiscliplinario; supone un desafío para el odontólogo, ya que por lo general están involucradas todas las piezas dentarias y afecta no solo la salud buco dental sino el aspecto emocional y psicológico de los pacientes. Con el obje-tivo de describir el tratamiento integral y rehabilita-dor realizado en una paciente con diagnóstico de AI tipo III, se reporta el caso de un adolescente de sexo femenino de 13 años, que concurrió en demanda de atención a la Cátedra de Odontología Integral Niños de la Facultad de Odontología de la Universidad de Buenos Aires (FOUBA), cuyo motivo de consulta fue la apariencia estética y la hipersensibilidad de sus pie-zas dentarias. Durante el examen clínico intraoral, se observó que todas las piezas dentarias presentaban un esmalte rugoso, blando, con irregularidades y una coloración amarronada, compatible con diagnóstico de Amelogénesis Imperfecta tipo III hipomineralizada. Conclusión: El tratamiento rehabilitador de la AI en los pacientes en crecimiento y desarrollo estará diri-gido a intervenir de manera integral y temprana para resolver la apariencia estética y funcional, evitar las repercusiones sociales y emocionales, y acompañar a los pacientes y sus familias (AU)

Amelogenesis imperfecta (AI) is a group of clinically and etiologically heterogeneous hereditary disorders, derived from genetic mutations, characterized by qualitative and quantitative anomalies of enamel development, which can affect primary and/or permanent dentition. The treatment of patients with AI is complex and multidisciplinary, it is a challenge for the dentist, since in general all the teeth are involved and it affects not only oral health but also the emotional and psychological aspect of the patients. Objective: To describe the comprehensive and rehabilitative treatment carried out in an adolescent patient with a diagnosis of type III AI. Case report: The case of a 13-year-old female patient, who required dental attention at the Department of Dentistry for Children of the School of Dentistry of the University of Buenos Aires, whose reason for consultation was esthetic appearance and hypersensitivity of her teeth. In the intraoral clinical examination, it was observed that all the teeth had rough, soft enamel, with irregularities and a brownish color, compatible with the diagnosis of type III hypomineralized Amelogenesis Imperfecta. Conclusion: Rehabilitative treatment of AI in growing and developing patients will be aimed at early and comprehensive intervention to resolve esthetic and functional appearance, avoid social and emotional repercussions and accompany patients and their families (AU)

Implicación clínica del protostílido: una mirada desde la antropología dental y la odontología no invasiva / Clinical implication of protostlylid: a point of view from dental anthropology and non-invasive dentistry

RESUMEN De acuerdo al modelo patológico multifactorial, la morfología dental ha sido asociada como uno de los factores etiológicos de la caries al favorecer el acumulo de restos alimenticios y la retención de biopelícula. Uno de los rasgos morfológicos dentales más frecuentes de la población colombiana es el punto P del protostílido, el cual se constituye en una fosa que se expresa en el surco de desarrollo vestibulomesial de los molares inferiores, región que le sigue a la superficie oclusal como uno de los sitios en donde se desarrollan con más frecuencia lesiones cariosas. Sin embargo, el desconocimiento de este rasgo morfológico por la mayoría de los odontólogos hace que el sistema morfológico del protostílido sea mal diagnosticado, lo que conlleva en muchos casos al sobretratamiento de dicha fosa con terapéuticas invasivas, las cuales, podrían ser evitadas con un conocimiento adecuado de la morfología dental y con un manejo preventivo o con técnicas no invasivas. Por tanto, el objetivo de esta revisión de tema es reconocer la expresión del punto P del protostílido y realizar una aproximación a las implicaciones clínicas del mismo y las posibilidades diagnósticas y terapéuticas conservadores que ofrece la odontología para controlar el acumulo de restos alimenticios y la retención de biopelícula.

ABSTRACT According to the multifactorial pathological model, dental morphology has been associated as one of the etiological factors of caries by favoring the accumulation of food remains and biofilm retention. One of the most frequent of non-metric dental traits of the Colombian population is the P point of the protostylid, which is constituted in a fossa that is expressed in the bucomesial development groove of the lower molars, a region that follows the occlusal surface as one of sites where carious lesions develop more frequently. However, the lack of knowledge of this morphological feature by most dentists makes the morphological system of the protostylid misdiagnosed, which in many cases leads to the overtreatment of this pit with invasive therapies, which could be avoided with a knowledge adequate dental morphology and with a preventive management or non-invasive techniques. Therefore, the aim of this review of the subject is to reconcile the expression of the P point of the protostylid and to make an approximation to the clinical implications of the same and the conservative diagnostic and therapeutic possibilities offered by dentistry to control the accumulation of food rests and retention of dental biofilm.

Clinical management of Hypoplasic Amelogenesis Imperfecta: a challenge for multidisciplinary team. A case report / Manejo clínico de la amelogénesis imperfecta hipoplásica: un desafío para el equipo multidisciplinar. Reporte de un caso

Abstract Amelogenesis imperfecta (AI) refers to a group of rare genetic disorders that involve tooth development and are passed down through families. Hypoplasic AI phenotypes include the absence of enamel as a result of a defect in the secretory stage. This case report describes the diagnosis and treatment of a patient with hypoplastic AI. The clinical implications include sensitive teeth, functional problems, and aesthetic complaining. The diagnosis was done through history, clinical examination and imaging. The intervention was performed by Direct Resin Veneers. This treatment showed to improve occlusion, esthetics, and self-image of the teenager. The satisfactory clinical result has made it possible to avoid more invasive and expensive treatments.

RESUMEN La amelogénesis imperfecta (AI) se refiere a un grupo de trastornos genéticos raros que involucran el desarrollo de los dientes y se transmiten de padres a hijos. Los fenotipos de AI hipoplásicos incluyen la ausencia de esmalte como resultado de un defecto en la etapa secretora. Este reporte de caso clínico describe el diagnóstico y tratamiento de un paciente con AI tipo hipoplásica. Las implicaciones clínicas incluyen dientes sensibles, problemas funcionales y quejas estéticas. El diagnóstico se realizó mediante anamnesis, exploración clínica e imagenología. La intervención fue realizada con carillas directas de resina. Este tratamiento demostró mejoras en la oclusión, la estética y la autoimagen del adolescente. El resultado clínico satisfactorio permitió evitar tratamientos más invasivos y costosos.

Mecanismos moleculares de la amelogénesis imperfecta. Una revisión de los genes ENAM, AMBN, FAM83H, MMP20 y KLK4 / Molecular mechanisms of amelogenesis imperfecta. A review of the ENAM, AMBN, FAM83H, MMP20 and KLK4 genes / Mecanismos moleculares da amelogênese imperfeita. Uma revisão dos genes ENAM, AMBN, FAM83H, MMP20 e KLK4

Resumen La amelogenesis imperfecta (AI) es un trastorno hereditario que afecta la estructura y apariencia clínica del esmalte dental. Hasta la fecha, se han asociado las mutaciones de 18 genes como la etiología de la AI no sindrómica. El objetivo de este trabajo es actualizar los conocimientos vigentes acerca de los genes ENAM, AMBN, FAM83H, MMP20 y KLK4 causantes de los diferentes tipos de AI. Metodología: Se realizó una búsqueda bibliográfica considerando artículos científicos desde el 2003 al 2021 sobre mutaciones en los genes mencionados en los siguientes portales: scielo, Pubmed/MEDLINE, Cochrane y Springer Link. Resultados: 37 artículos cumplieron los criterios de inclusión y fueron utilizados para esta revisión. Conclusiones: Dependiendo del gen implicado, las alteraciones del esmalte pueden mostrar una variedad de características. Los mecanismos biológicos que conducen a la enfermedad son múltiples y variados, sin embargo, muchos de ellos no están del todo claro aún, por lo que se requerirá de más investigaciones para mejorar nuestra comprensión del tema.

Amelogenesis imperfecta (AI) is an inherited disorder that affects the structure and clinical appearance of tooth enamel. Mutations of 18 genes have been associated as the etiology of AI. The objective of this work is to update the current knowledge about ENAM, AMBN, FAM83H, MMP20 and KLK4 genes that cause the different types of AI. Methodology: A bibliographic search was carried out considering scientific articles from 2003 to 2021 with regard to specific mutations in the aforementioned genes in the following portals: scielo, Pubmed / MEDLINE, Cochrane and Springer Link. Results: 37 articles met the inclusion criteria and were used for the development of this review. Conclusions: Depending on the gene involved, enamel alterations can show a variety of characteristics. The biological mechanisms that lead to the disease are multiple and varied, however many of them are not entirely clear yet, so more research will be required to improve our understanding of the subject.

A amelogênese imperfeita (AI) é uma doença hereditária que afeta a estrutura e aparência clínica do esmalte dentário. Mutações de 18 genes têm sido associadas como causa do AI. O objetivo deste trabalho é atualizar o conhecimento atual sobre genes ENAM, AMBN, FAM83H, MMP20 e KLK4 que causam os diferentes tipos de IA. Metodologia: Foi realizada uma busca bibliográfica considerando artigos científicos de 2003 até 2021 sobre mutações específicas nos genes citados nos seguintes portais: scielo, Pubmed / MEDLINE, Cochrane e Springer Link. Resultados: 37 artigos atenderam aos critérios de inclusão e foram utilizados para o desenvolvimento desta revisão. Conclusões: Dependendo do gene envolvido, as alterações do esmalte podem apresentar uma variedade de características. Os mecanismos biológicos que levam à doença são múltiplos e variados, porém muitos de les ainda não estão totalmente esclarecidos, portanto, mais pesquisas serão necessárias para melhorar nossa compreensão do assunto.

Amelogênese imperfeita do tipo hipoplásica: relato de dois casos familiares / Amelogénesis imperfecta del tipo hipoplásico: informe de dos casos familiares / Hypoplastic amelogenesis imperfecta: report of two family cases

RESUMO Introdução: Diariamente o cirurgião dentista se depara com diversos casos que exigem acurácia no diagnóstico inicial e atenção para o tratamento que irá ser proposto, uma dessas é a amelogênese imperfeita, que é uma rara alteração dentária de caráter hereditário. As características principais da amelogênese imperfeita são hipomineralização ou hipoplasia da matriz de esmalte, o que ocasiona descoloração, sensibilidade e fragilidade deste tecido, apresentando diferentes subtipos clínicos, sendo a variante hipoplásica a mais prevalente. Objetivo: Relatar dois casos de amelogênese imperfeita do tipo hipoplásica entre membros de uma mesma família, correlacionando-os. Apresentação do caso: O diagnóstico foi feito através dos exames clínico e radiográfico, além da correlação entre os achados clínicos encontrados em cada paciente e com outros familiares, sendo proposto um plano de tratamento multidisciplinar e consistente com a condição adequada. Conclusões: É importante para o cirurgião dentista estudar e conhecer essas alterações raras para poder estabelecer diagnóstico preciso. Além disso, deve-se ampliar a conduta clínica através de um planejamento individualizado e/ou familiar, tratando não apenas aspectos estéticos e funcionais, mas também psicológico e sociais(AU)

RESUMEN Introducción: Diariamente el cirujano dentista se enfrenta a varios casos que exigen precisión en el diagnóstico inicial y atención para el tratamiento que se propondrá, una de las cuales es la amelogénesis imperfecta, que es un rara alteración dental de carácter hereditario. Las características principales de la amelogénesis imperfecta son hipomeralización o hipoplasia de la matriz de esmalte, lo que ocasiona decoloración, sensibilidad y fragilidad de este tejido, con la presencia de diferentes subtipos clínicos, siendo la variante hipoplásica la más prevalente. Objetivo: Informar dos casos de amelogénesis imperfecta del tipo hipoplásica entre miembros de una misma familia, correlacionándolos. Presentación del caso: El diagnóstico se realizó a través de los exámenes clínicos y radiográficos, además de la correlación entre los hallazgos clínicos encontrados en cada paciente y con otros familiares, por lo que fue propuesto un plan de tratamiento multidisciplinario y consistente con la condición adecuada. Conclusiones: Es importante para el cirujano dentista que estudie y conozca estos cambios raros para poder establecer un diagnóstico preciso. Además, se debe ampliar la conducta clínica a través de una planificación individualizada y / o familiar, tratando no solo aspectos estéticos y funcionales, sino también psicológicos y sociales(AU)

ABSTRACT Introduction: Dental surgeons are confronted every day with several cases that require accuracy in the initial diagnosis and attention to the treatment that will be proposed. One of these is amelogenesis imperfecta, a rare hereditary tooth alteration. The main features of amelogenesis imperfecta are hypomineralization or hypoplasia of the enamel matrix resulting in discoloration, sensitivity and fragility of this tissue. Of the existing clinical subtypes, the hypoplastic variant is the most prevalent. Objective: Report and correlate two cases of hypoplastic amelogenesis imperfecta in members of the same family. Case presentation: The diagnosis was based on clinical and radiographic examination, as well as analysis of the correlation between the clinical findings obtained from each patient and other relatives. The treatment plan proposed was therefore multidisciplinary and appropriately consistent with the condition. Conclusions: It is important for dental surgeons to study and be aware of these rare changes to be able to establish an accurate diagnosis. On the other hand, clinical management should be broadened through individualized and/or family planning, paying attention not only to esthetic and functional aspects, but psychological and social as well(AU)

Gingival inflammation, enamel defects, and tooth sensitivity in children with amelogenesis imperfecta: a case-control study

Abstract Gingival conditions and tooth sensitivity of young patients with amelogenesis imperfecta lack in depth studies. This case-control study aimed to compare (1) the gingival inflammation, the presence of enamel defects, and tooth sensitivity in young patients with and without amelogenesis imperfecta and (2) to investigate if any difference exists between subtypes of amelogenesis imperfecta. Methodology We compared forty-two participants with amelogenesis imperfecta with forty-two controls matched for age, gender, and the number of examined sites. Based on interview, clinical examination, and intraoral photography, we collected data on periodontal conditions, enamel defects and the presence of tooth sensitivity. Comparison tests were performed to investigate if any difference existed between cases and controls; and among cases, between the different subtypes of amelogenesis imperfecta. We performed a post-hoc analysis for any significant difference observed. Results We observed more gingival inflammation, enamel defects and tooth sensitivity among cases (all p<0.05). Participants with hypocalcified amelogenesis imperfecta had more gingival inflammation, enamel defects, and tooth sensitivity than patients with the hypoplastic and hypomature subtypes (all p<0.05). After adjustment for dental plaque, gingival inflammation was associated with the presence of amelogenesis imperfecta (OR (95%CI) = 1.14 (1.05; 1.24). p<0.01). Conclusion Gingival inflammation, enamel defect and tooth sensitivity are more frequently observed among young patients with amelogenesis imperfecta, and more specifically among children with the hypocalcified subtype.

Tratamiento conservador de un adolescente con amelogénesis imperfecta / Conservative treatment for an adolescent with amelogenesis imperfecta

RESUMEN: La amelogénesis imperfecta es un trastorno hereditario que afecta la formación del esmalte presentándose en dentición decidua y permanente. Existen numerosas clasificaciones, donde la amelogénesis imperfecta hipoplásica presenta las siguientes características clínicas: reducción del espesor del esmalte, coloración entre amarillo y marrón, superficie rugosa y falta de contacto interproximal. Estos pacientes reportan niveles más altos de evitación social y angustia por lo que es imperativo realizar un buen tratamiento rehabilitador. El presente artículo tiene como objetivo describir la secuencia terapéutica de un paciente adolescente diagnosticado con amelogénesis imperfecta hipoplásica utilizando la técnica modificada clear matrix con resinas compuestas.

ABSTRACT: Amelogenesis imperfecta is an inherited disorder affecting enamel formation in deciduous and permanent dentition. There are a large number of classifications, where hypoplastic amelogenesis imperfecta has the following clinical features: reduced enamel thickness, yellowish brown coloration, rough surface and lack of interproximal contact. These patients report the highest levels of social avoidance and distress, and it is therefore imperative to perform a good rehabilitative treatment. The objective of this paper is to describe the therapeutic sequence of an adolescent patient diagnosed with hypoplastic amelogenesis imperfecta, using the modified clear matrix technique with composite resins.

Rehabilitación protésica de una paciente con amelogénesis imperfecta / Prosthetic rehabilitation of a female patient with imperfect amelogenesis

Se describe el caso clínico de una paciente de 14 años de edad, quien fue remitida por el estomatólogo general integral al Centro de Rehabilitación de Prótesis Bucomaxilofacial de Santiago de Cuba para efectuar rehabilitación protésica. Al examen físico intrabucal se observaron dientes permanentes (11, 12, 13, 21, 22 y 23) de color anormal y manchas marronas en toda la superficie del esmalte, lo cual fue diagnosticado como una amelogénesis del tipo hipocalcificado. Se decidió realizar restauraciones individuales de coronas fundas provisionales de acrílico para mejorar su función y estética dental.

The case report of a 14 years patient is described who was referred by the general comprehensive stomatologist to the Oral and Maxillofacial Prosthesis Rehabilitation Center in Santiago de Cuba for prosthetic rehabilitation. Abnormal color and brown stains in the whole surface of the enamel of her permanent teeth were observed during the intraoral physical exam (11, 12, 13, 21, 22 and 23), which was diagnosed as an amelogenesis of hypocalcified type. It was decided to carry out individual restorations of provisional cases crowns with acrylic to improve their function and dental aesthetics.

Immunohistochemical study of amelogenin binding proteins in an amelogenin point mutation mouse / Estudio inmunohistoquímico de proteínas de unión de la amelogenina en un ratón con mutación puntual de amelogenina

Amelogenin is one of the enamel matrices secreted by ameloblasts. A mutation of the amelogenin gene can cause hereditary dental enamel defects known as amelogenesis imperfecta (AI). Since lysosome-associated membrane protein-1 (LAMP-1), -3 (LAMP-3), and 78kDa glucose-related protein (Grp78) were identified as binding proteins of amelogenin, several studies have suggested the involvement of these binding proteins with the cell kinetics of ameloblasts in normal or abnormal conditions. The purpose of this study is to investigate the distribution of these amelogenin binding proteins in the ameloblast cell differentiation of mice with a point mutation of the amelogenin gene (Amelx*). The incisors of Amelx* mice had a white opaque color and the tooth surface was observed to be rough under a scanning electron microscope. Among the sequential ameloblast cell differentiation in the Amelx* mice, the shape of ameloblasts at the transition stage was irregular in comparison to those in wild-type (WT) mice. Immunostaining of Grp78 revealed that the whole cytoplasm of the transition stage ameloblasts was immunopositive for Grp78 antibody, while only the distal part of cell was positive in the WT mice. Furthermore, in the Amelx* mice, the cytoplasm of the transition stage ameloblasts was immunopositive for LAMP-1 and LAMP-3. These results suggest that Amelx* may cause the abnormal distribution of amelogenin binding proteins in the cytoplasm of ameloblasts.

La amelogenina es una de las matrices de esmalte secretadas por los ameloblastos. Una mutación del gen de amelogenina puede causar defectos hereditarios del esmalte dental conocidos como amelogénesis imperfecta (AI). Dado que la proteína de membrana asociada a lisosoma-1 (LAMP-1), -3 (LAMP-3) y la proteína relacionada con la glucosa de 78 kDa (Grp78) se identificaron como proteína de unión a amelogenina, varios estudios han sugerido la participación de estas proteínas con la cinética celular de los ameloblastos en condiciones normales o anormales. El objetivo del estudio fue investigar la distribución de LAMP-1, LAM-3 y Grp78 durante la diferenciación celular de ameloblastos de ratones con una mutación puntual del gen de amelogenina (Amelx*). Los incisivos de los ratones Amelx* presentaron un color blanco opaco y se observó en microscopio electrónico de barrido que la superficie del diente era áspera. La diferenciación celular secuencial y la forma de los ameloblastos en la etapa de transición en los ratones Amelx* fue irregular en comparación con los ratones silvestres (RS). La inmunotinción de Grp78 reveló que todo el citoplasma de los ameloblastos en etapa de transición fue inmunopositivo para el anticuerpo Grp78, mientras que solo la parte distal de la célula fue positiva en los ratones RS. Además, en ratones Amelx*, el citoplasma de los ameloblastos en etapa de transición fue inmunopositivo para LAMP-1 y LAMP-3. Estos resultados sugieren que Amelx* puede causar distribución anormal de proteínas de unión a amelogenina en el citoplasma de los ameloblastos.

Genes involved in amelogenesis imperfecta. Part II / Genes involucrados en la amelogénesis imperfecta. Parte II

ABSTRACT Amelogenesis imperfecta (AI) is a condition of genetic origin that alters the structure of tooth enamel. AI may exist in isolation or associated with other systemic conditions as part of a syndromic AI. Our goal is to describe in detail the genes involved in syndromic AI, the proteins encoded by these genes, and their functions according to current scientific evidence. An electronic literature search was carried out from the year 2000 to December 2017, pre-selecting 1,573 articles, 40 of which were analyzed and discussed. The results indicate that mutations in 12 genes are responsible for syndromic AI: DLX3, COL17A1, LAMA3, LAMB3, FAM20A, TP63, CNNM4, ROGDI, LTBP3, FAM20C, CLDN16, CLDN19. These genes participate in the coding of proteins involved in phosphorylation, ion exchange, and production and degradation of the constituent elements of the mineral and organic phase of tooth enamel. The scientific evidence confirms that AI can be part of the syndrome and requires special attention from the medical-dental community.

RESUMEN La amelogénesis imperfecta (AI) es una condición de origen genético que altera la estructura del esmalte dental. La AI puede existir de manera aislada o asociada a otras afecciones sistémicas en el contexto de una AI sindrómica. El objetivo es describir de manera detallada los genes involucrados en las AI sindrómicas, las proteínas codificadas por estos genes y sus funciones de acuerdo a la evidencia científica actual. Se realizó una búsqueda electrónica de literatura desde el año 2000 hasta diciembre de 2017, después de lo cual se preseleccionaron 1.573 artículos, de los cuales 40 fueron analizados y discutidos. Los resultados indican que mutaciones en 12 genes son responsables de una AI sindrómica: DLX3, COL17A1, LAMA3, LAMB3, FAM20A, TP63, CNNM4, ROGDI, LTBP3, FAM20C, CLDN16, CLDN19. Estos genes están implicados en la codificación de proteínas que participan en la fosforilación, intercambio de iones, y producción y degradación de los elementos constituyentes de la fase mineral y orgánica del esmalte dental. La evidencia científica confirma que la AI puede ser parte del síndrome y amerita una especial atención de la comunidad médica-odontológica.

Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión / Alteration of the AMELX gene in amelogenesis imperfecta. A brief review

Resumen La amelogénesis imperfecta es un grupo de trastornos de desarrollo del esmalte dental asociados principalmente con mutaciones en el gen AMELX. Clínicamente presenta diferentes fenotipos que afectan la estructura y función del esmalte, tanto de la dentición primaria como secundaria. El objetivo de este estudio fue realizar una revisión bibliográfica de las funciones y mutaciones de AMELX relacionadas con amelogénesis imperfecta. Se llevó a cabo una revisión bibliográfica en dos bases de datos: PubMed y Web of Science, usando las palabras clave “AMELX”, “amelogenina”, “amelogénesis imperfecta” y “mutación de AMELX”. Fueron revisados 40 artículos y se encontró que AMELX es el gen predominante en el desarrollo del esmalte dental y de la amelogénesis imperfecta, alterando la estructura de la amelogenina. En los últimos años se han descrito las características en el proceso de amelogénesis imperfecta con diferentes fenotipos de esmalte hipoplásico o hipomineralizado y se han reportado diferentes mutaciones, con lo que se ha determinado la secuenciación del gen y las posiciones de las mutaciones.

Abstract Amelogenesis imperfecta is a group of developmental disorders of the dental enamel that is mainly associated with mutations in the AMELX gene. Clinically, it presents different phenotypes that affect the structure and function of dental enamel both in primary and secondary dentition. The purpose of this study was to conduct a literature review on the AMELX functions and mutations that are related to amelogenesis imperfecta. A literature search was carried out in two databases: PubMed and Web of Science, using the keywords “AMELX”, “amelogenin”, “amelogenesis imperfecta” and “AMELX mutation”. Forty articles were reviewed, with AMELX being found to be the predominant gene in the development of dental enamel and amelogenesis imperfecta by altering the structure of amelogenin. In the past few years, the characteristics of the amelogenesis imperfecta process have been described with different phenotypes of hypoplastic or hypo-mineralized enamel, and different mutations have been reported, by means of which the gene sequencing and the position of mutations have been determined.

Diagnóstico y tratamiento integral en pacientes con Amelogénesis Imperfecta: reporte de un caso / Diagnóstico e tratamento integral em pacientes com Amelogênese Imperfeita: relato de um caso / Diagnosis and comprehensive treatment for patients with Amelogenesis Imperfecta. Case report

Objetivo: La Amelogénesis Imperfecta comprende un grupo heterogéneo de defectos del esmalte de origen genético, debidos a alteraciones en la formación del esmalte dentario, en calidad y/o cantidad. El diagnóstico se basa en la observación clínica, exámenes radiográficos, la historia familiar, el árbol genealógico y cuando es posible el diagnóstico genético. Se caracteriza por tener un amplio rango de presentaciones clínicas en ambas denticiones. Esta afección tiene un alto impacto en niños y adolescentes debido a que la carencia estética y la disfunción limitan su calidad de vida. La atención integral se convierte en un aspecto esencial y demanda una inteligente y necesaria interacción profesional, paciente y familia, la cual debe establecerse en forma temprana y de manera interdisciplinaria. Objetivo: Presentar un reporte de casocaso de un paciente de 11 años con Amelogénesis Imperfecta y diagnóstico clínico y radiográfico de tipo hipoplásico, apoyado en su historia familiar. El tratamiento integró varias etapas: uso de agentes remineralizantes a fin de restaurar los tejidos dentarios; ortodoncia para crear espacio para la erupción del canino retenido (13) y alineación de la arcada dentaria superior y rehabilitación dentaria con resinas compuestas y coronas metálicas fenestradas en oclusal. Conclusiones: El seguimiento por cinco años con una actitud muy positiva de la paciente hacia el mantenimiento de su salud, confirma que en el adolescente, una sonrisa saludable es importante en el desarrollo de la autoestima y las relaciones interpersonales.

A Amelogênese Imperfeita compreende um grupo heterogêneo de defeitos de esmalte de origem genética, que ocorre devido a alterações na formação de esmalte dentário, e podendo comprometer em qualidade e/ou quantidade do mesmo. O diagnóstico é baseado em observação clínica e radiográfica, história familiar, padrão genético familiar e quando possível, realização de uma investigação genética. Ela caracteriza-se por ter uma ampla gama de manifestações clínicas em ambas as dentições. Esta condição tem um alto impacto em crianças e em adolescentes, gerando um comprometimento social, a funçáo e consequentemente, limitando a qualidade de vida dos pacientes. O cuidado integral torna-se um aspecto essencial do tratamento, exigindo uma interação do profissional com o paciente e seus familiares, que deve ser estabelecida de forma precoce e interdisciplinar. Os objetivos do plano de tratamento devem abranger três aspectos: prevenção, restauração da estrutura dental e reabilitação estética. Objetivo: Paciente de 11 anos de idade, com amelogênese Imperfeita de tipo hipoplásico, segundo o diagnostico clínico e radiográfico e com base na história familiar. O tratamento foi realizado em diversas etapas: uso de agentes remineralizantes na remineralizacão de tecidos dentais, tratamento ortodóntico para criar espaço para a erupção do canino retido e o alinhamento da arcada dentária superior, e por último, a reabilitação com resinas compostas e coroas metálicas fenestradas na superfície oclusal. Conclusão: Durante cinco anos de acompanhamento, o paciente tem demonstrado uma atitude muito positiva em relação à manutenção de sua saúde, confirmando-se que na adolescência, um sorriso saudável é importante no desenvolvimento da autoestima e das relações interpessoais.

Amelogenesis Imperfecta is a diverse group of hereditary and heterogeneous enamel defects, due to alterations in the formation of dental enamel in quality and/or quantity. Diagnosis is based on clinical and radiological findings, family history, family tree, and genetic diagnosis when it is possible. It is characterized by a wide range of clinical presentations in both dentitions. This condition has a high impact on children and adolescents, generates a very disadvantageous social performance since aesthetic problems and dysfunction limit their quality of life. Comprehensive care becomes an essential aspect and it demands a close and necessary professional, patient and family interaction, which must be established early and in an interdisciplinary way. Objective: We present a patient with Amelogenesis Imperfecta, 11 years old, with a clinical and radiographic diagnosis of hypoplastic type, based on her family history. The treatment integrated several stages: use of remineralizing agents in order to restore Latinoamericanadental tissues, orthodontics to create space for the eruption of the retained canine (13), and the alignment of upper dental arch, and rehabilitation with composite resins and metal crowns fenestrated in occlusal. Conclusion: The five year follow- up, with a very positive attitude of the patient toward the maintenance of her health, suggests that in adolescence, a healthy smile is important in the development of self-esteem and interpersonal relationships.

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.

Caracterización fenotípica del síndrome amelogénesis imperfecta­nefrocalcinosis: una revisión / Phenotypic characterization of amelogenesis imperfectanephrocalcinosis syndrome: a review

La Amelogénesis Imperfecta (AI) es alteración de la estructura y apariencia del esmalte dental de origen genético, puede presentarse como defecto aislado o sistémico. El Síndrome Amelogénesis imperfecta­Nefrocalcinosis (OMIM # 204690), también conocido como Síndrome Esmalte-Renal (ERS, en inglés), se caracteriza por la presencia de AI de tipo hipoplásico, hiperplasia gingival con mineralizaciones ectópicas, retraso y/o ausencia de la erupción dental y Nefrocalcinosis. Este síndrome es asociado a mutaciones autosómicas recesivas del gen FAM20A. El objetivo de esta revisión es exponer las características clínicas y fenotípicas de pacientes con el Síndrome Amelogénesis imperfecta­ Nefrocalcinosis. La obtención del material fue realizado mediante una búsqueda electrónica en las bases de datos MEDLINE (PubMed), EBSCO- Host y Scopus (ScienceDirect). Los resultados confirman la escasa frecuencia de casos clínicos con el Síndrome Amelogénesis imperfecta­Nefrocalcinosis. Las características clínicas y fenotípicas se exponen de manera clara, sencilla y precisa. Se recomienda a los odontólogos generales y odontólogos pediátricos que al diagnosticar una AI, particularmente de tipo hipoplásico, realicen una detallada historia médica personal - familiar y contemplen una interconsulta con el servicio de nefrología que permita diagnosticar o realizar un seguimiento al estado renal del paciente de una forma preventiva.

Amelogenesis Imperfecta (AI) is an alteration of the structure and appearance of dental enamel of genetic origin that can occur as an isolated or systemic defect. The Amelogenesis Imperfecta-Nefrocalcinosis Syndrome (OMIM # 204690), also known as Enamel-Renal Syndrome (ERS), is characterized by the presence of hypoplastic AI, gingival hyperplasia with ectopic mineralization, delayed tooth eruption and Nephrocalcinosis. This syndrome is associated with autosomal recessive mutations of the FAM20A gene. The aim of this review is to present the clinical and phenotypic characteristics of patients with the Amelogenesis Imperfecta-Nefrocalcinosis Syndrome. The material was obtained through an online search of MEDLINE database (PubMed), EBSCO-Host and Scopus (ScienceDirect). The results confirm the low frequency of clinical cases reported with Syndrome Amelogenesis Imperfecta-Nefrocalcinosis. The clinical and phenotypic characteristics were exposed in a clear, simple and precise way. It is recommended to general dentists and pediatric dentists that, when diagnosing an AI, particularly of hypoplastic type, they perform a detailed personal-family medical history and contemplate an interconsultation with the nephrology service that allows to diagnose or monitor the patient's renal status in a preventive style.

Genes involved in amelogenesis imperfecta. part i / Genes involucrados en la amelogénesis imperfecta. parte i

ABSTRACT Amelogenesis imperfecta (AI) refers to a group of genetic alterations of the normal structure of the dental enamel that disturbs its clinical appearance. AI is classified as hypoplastic, hypocalcified, and hypomaturation. These abnormalities may exist in isolation or associated with other systemic conditions in the context of a syndrome. This article is aimed to thoroughly describe the genes involved in non-syndromic AI, the proteins encoded by these genes and their functions according to current scientific evidence. An electronic literature search was carried out from the year 2000 to December of 2017, preselecting 1,573 articles, 63 of which were analyzed and discussed. The results indicated that mutations in 16 genes are responsible for non-syndromic AI: AMELX, AMBN, ENAM, LAMB3, LAMA3, ACPT, FAM83H, C4ORF26, SLC24A4, ITGB6, AMTN, MMP20, KLK4, WDR72, STIM1, GPR68. Future research with a translational approach will help to identify new mutations or genes, contributing to the evolution in the way of classifying, diagnosing and treating the various types of amelogenesis imperfecta.

RESUMEN La amelogénesis imperfecta (AI) constituye un grupo de alteraciones de la estructura normal del esmalte dental de origen genético que perturba su apariencia clínica. La AI se clasifica en hipoplásica, hipomadura e hipocalcificada. Estas anomalías pueden existir de manera aislada o asociada a otras afecciones sistémicas en el marco de un síndrome. En el presente artículo se pretende describir de manera detallada los genes involucrados en la AI no sindrómica, las proteínas codificas por estos genes y sus funciones, de acuerdo a la evidencia científica actual. Se realizó una búsqueda electrónica de literatura desde el año 2000 hasta diciembre de 2017, haciendo una preselección de 1573 artículos, de los cuales 63 fueron analizados y discutidos. Los resultados indicaron que las mutaciones en 16 genes son responsables de la AI no sindrómica: AMELX, AMBN, ENAM, LAMB3, LAMA3, ACPT, FAM83H, C4ORF26, SLC24A4, ITGB6, AMTN, MMP20, KLK4, WDR72, STIM1, GPR68. Las futuras investigaciones abordadas desde la visión translacional ayudarán a identificar nuevas mutaciones o nuevos genes, lo cual contribuirá a la evolución en la manera de clasificar, diagnosticar y tratar los diferentes tipos de amelogénesis imperfecta.

Desafios no diagnóstico e tratamento da amelogênese imperfeita: relato de caso / Challenges in the diagnosis and treatment of amelogenesis imperfecta: case report

A amelogênese imperfeita é uma alteração genética que acomete a morfologia do esmalte dentário, podendo ocorrer na dentição decídua e/ou permanente. Por apresentar um amplo espectro clínico é de suma importância um diagnóstico precoce para um correto planejamento odontológico. Diante disso, objetivou-se apresentar o caso de uma criança portadora de amelogênese imperfeita, incluindo o diagnóstico e os tratamentos executados, por um período de 4 anos. Paciente AHM, sexo feminino, 7 anos, procurou o Centro de Saúde Veiga de Almeida para acompanhamento odontológico de rotina. Apresentava dentição mista hígida e alterações de cor na coroa dentária nos incisivos e molares permanentes. Nesse momento foi diagnosticada como portadora de hipomineralização de molares e incisivos. Após a erupção dos demais dentes permanentes e o acometimento de praticamente todos os elementos, a criança foi diagnosticada como portadora de amelogênese imperfeita. Durante o período de tratamento foram realizados diversos procedimentos, entre eles restaurações, microabrasão, facetas em resina composta e coroa do tipo onlay. Pode-se concluir que o cirurgião-dentista deve estar atento quanto aos sinais e sintomas dos pacientes portadores de amelogênese imperfeita, juntamente com possíveis alterações emocionais que acometem esses pacientes. O tratamento executado foi considerado um sucesso, uma vez que as queixas da paciente foram atendidas através de um tratamento odontológico adequado capaz de restabelecer a função e a estética da criança.

Amelogenesis imperfecta is a genetic alteration that affects the dental enamel morphology, and may occur in the deciduous and/or permanent dentition, with or without systemic involvement. For presenting a broad clinical spectrum of paramount importance is a prior diagnosis for a correct dental planning. The objective was to present the report of a child with amelogenesis imperfecta, including diagnosis and treatments performed, for a period of 4 years. Patient AHM, female, 7 years, sought the Veiga de Almeida Health Center for routine dental follow-up. She presented mixed dentition with color enamel alteration in the dental crown on the permanent and molar incisors. At this moment she was diagnosed as having molar-incisive hypomineralization. After the eruption of the remaining teeth and the involvement of almost al the elements, the child was diagnosed as having amelogenesis imperfecta. During the treatment period, restorations, microabrasion, composite resin facets and onlay type crown were performed. It can be concluded that the dental surgeon should be aware of the signs and symptoms of patients with imperfect amelogenesis. The treatment performed was considered a success at a time and the patient complaints were answered, receiving adequate dental treatment and restoration of the child's function and aesthetics.

Amelogénesis imperfecta en una familia / Amelogenesis imperfecta in a family

Introducción: la amelogénesis imperfecta consiste en un grupo de desórdenes hereditarios que afectan el desarrollo del esmalte dental, de tal forma que se ve comprometida la apariencia clínica de todos o casi todos los dientes, tanto temporales como permanentes. Objetivo: informar las características y condiciones clínicas de la dentición de tres individuos de una misma familia con diagnóstico presuntivo de amelogénesis imperfecta. Presentación de casos: se realizó examen intrabucal a tres individuos con rango de consanguinidad de primer grado (madre y dos hijos) quienes presentaban alterado estructuralmente el esmalte de los dientes. De acuerdo con las características clínicas dentales y el método de Witkop, los individuos fueron diagnosticados de forma presuntiva con amelogénesis imperfecta hipomadura tipo II (madre), caracterizada por hipomaduración del esmalte y fragmentación por desgaste en los bordes incisales; amelogénesis imperfecta hipoplásica tipo I (hijo mayor), con amplias zonas de dentina expuesta opaca y con manchas pardas generalizadas; y amelogénesis imperfecta hipomadura tipo II (hijo menor), con predominio de lesiones en forma de copo de nieve o motas de algodón. Conclusiones: el diagnóstico clínico de la amelogénesis imperfecta basado en métodos fenotípicos resulta impreciso debido a la imposibilidad de establecer el origen de las alteraciones macroestructurales del esmalte. Sin embargo, de acuerdo con la descripción de los tres casos, son las afecciones en la cantidad y calidad del esmalte las que permiten realizar un diagnóstico clínico presuntivo, que guía la implementación de un tratamiento odontológico direccionado a la solución del compromiso estético y a la prevención del compromiso del órgano dentino-pulpar. En esta presentación de casos, la manifestación fenotípica de la enfermedad pasó de la madre a ambos hijos, siendo la amelogénesis imperfecta hipomadura dominante en el hijo menor(AU)

Introduction: amelogenesis imperfecta consists of a group of hereditary disorders that affect the development of the dental enamel in such a way that the clinical appearance of all or almost all primary and permanent teeth is compromised. Objective: report the clinical characteristics and conditions of the dentition of three individuals from the same family with a presumptive diagnosis of amelogenesis imperfecta. Case presentation: intraoral examination was performed of three first-degree relatives (mother and two children) with structurally altered tooth enamel. Based on their clinical dental characteristics and the results of the Witkop method, the individuals were presumptively diagnosed with hypomaturation amelogenesis imperfecta type II (mother), characterized by enamel hypomaturation and fragmentation by wear on the incisal edges; hypoplastic amelogenesis imperfecta type I (elder son), with large areas of opaque exposed dentin and generalized brown spots; and hypomaturation amelogenesis imperfecta type II (younger son), with a predominance of lesions in the shape of snowflakes or cotton wads. Conclusions: clinical diagnosis of amelogenesis imperfecta based on phenotypic methods is imprecise, since it is not possible to establish the origin of the macrostructural alterations of the enamel. However, according to the description of the three cases, quantitative and qualitative damage to the enamel makes it possible to establish a presumptive clinical diagnosis which will guide the implementation of a dental treatment aimed at resolving the aesthetic commitment and preventing involvement of the dentine-pulp complex. In this case presentation, the phenotypic manifestation of the disease passed from the mother to both children, and hypomaturation amelogenesis imperfecta was dominant in the younger son(AU)

Temporary restorative treatment in children and adolescents with amelogenesis imperfecta: scoping review

Background: amelogenesis imperfecta (AI) is a group of disorders that affect the enamel of the teeth, either in quality or quantity. this alteration causes sensitivity and is associated with factors that could affect the strength of the adhesive bond of the restorative material. aim: to review the literature regarding the most used temporary restorative treatment in children and adolescents with AI. methods: this scoping review aimed to include case reports, literature reviews and original studies that evaluated restorative materials for the teeth of children and adolescents with AI. editorials, meeting abstracts and letters to the editor were excluded. the following electronic databases were used: Medline (Ovid), PubMed, Ebsco, Scopus (Elsevier) and Web of Science (Thomson Reuters). manual searches in the reference lists of the included articles were also carried out. finally, a search in Google Scholar restricted to the first 100 hits was performed. duplicates were eliminated upon identification. the search covered a period between the years of 2011 and 2016. PRISMA guidelines were used for reporting the review. the evidence ranking was carried out by means of the Oxford criteria. results: six articles met the eligibility criteria and were included in this scoping review. three articles were case reports, one was a review and two were original studies. tor the treatment of AI, direct or indirect composite resins were the most commonly used material of choice in the retrieved studies because they demonstrate greater longevity, aesthetics and function compared to the other materials used. conclusions: among children and adolescents with AI, the temporary restorative treatment that demonstrated better long-term results in permanent teeth was the direct and indirect composite resins. however, high quality studies should be conducted to confirm the results presented herein.

Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta

Abstract The aim of this paper was to describe a clinical case of immediate dental desensitization using a self-etch adhesive system in an adolescent patient diagnosed with amelogenesis imperfecta (AI). AI was associated with severe tooth sensitivity, treated by the application of a universal adhesive system for desensitization of the teeth affected by AI. Reduction of tooth sensitivity was assessed using a visual analog scale during all reevaluations. The technique was effective for reducing tooth sensitivity. It was concluded that the adhesive system for tooth desensitization had an immediate effect and maintained its effectiveness during a 12-month follow-up period.

Resumo O objetivo deste estudo foi descrever uma técnica de dessensibilização dental imediata, usando o adesivo universal em paciente adolescente diagnosticado com amelogênese imperfeita. O paciente afetado pela amelogênese imperfeita apresentava dentes extremamente sensíveis, e foi submetido a aplicações de adesivo universal para dessensibilizar os dentes afetados por amelogênese imperfeita. A redução da sensibilidade dentária foi avaliada pela escala analógica visual durante todas as reavaliações. A técnica foi efetiva na redução da sensibilidade dental. Concluiu-se que o uso do sistema adesivo foi eficaz na imediata dessensibilidazação dentária e mantida após doze meses de avaliação.