Amelogenesis Imperfecta Restorations Survival Rate: A Retrospective Study

@#Introduction: Amelogenesis imperfecta (AI) is a rare genetic disease affecting both dentitions. Factors such as age, socioeconomic status, dentition and AI type and severity should be taken into consideration in treatment planning. Aim: This retrospective study aimed to assess the survival rate of AI main restorative options and the effects of gender and dentition type. Methods: The study sample comprised 28 dental records of patients aged 5-17 years affected by AI (15 females, 13 males) and with anterior and/or posterior restoration in primary and/or permanent tooth/teeth. The fate of each restoration was classified into three categories: failed, withdrawn and censored and analyzed by the life table method of survival analysis. Results: Out of 233 restorations performed, the most frequently used restoration was preformed metal crowns (PMCs), followed by anterior composite, posterior composite, adhesive casting, Ketac fill and amalgam respectively. The two main restorations, PMCs and anterior composite were included in the statistical analysis. The survival rate of PMCs was significantly higher than anterior composite (p<0.001). The anterior composite restorations survived significantly longer in males (p<0.05). Females had significantly better survival rate of PMCs (p<0.05). There was no statistically significant effect of the operator group of restoration survival. Conclusion: The anterior composite restorations survived significantly longer in males and females had significantly better survival rate of PMCs than males.

Alteraciones sistémicas asociadas a Hipomineralización Molar Incisivo (HMI). Una revisión de literatura / Alterações sistêmicas associadas à Hipomineralização Molar Incisiva (HMI). Uma revisão da literatura / Systemic alterations associated with Incisor Molar Hypomineralization (HMI). A literature review

El estudio de hipomineralización en molares e incisivos fue descrito por primera vez en el año 1970, posteriormente en 2001 el término Hipomineralización Molar Incisivo (HMI) fue sugerido por la Academia Europea de Odontología Pediátrica (EAPD) para referirse a este como un defecto específico del desarrollo del esmalte; ya para el año 2003 se estandarizaron los criterios de diagnóstico clínico. La HMI es un defecto del esmalte dentario ampliamente estudiado, sin embargo, hasta la fecha los factores de riesgo no son concluyentes, pero se considera de origen sistémico y multifactorial. Las implicaciones sistémicas pueden acontecer en periodos específicos (pre, peri y posnatal) considerados periodos importantes y críticos en el desarrollo de la vida humana. Objetivo: aportar la mejor evidencia científica disponible sobre los factores sistémicos asociados a la Hipomineralización Molar Incisivo. Materiales y métodos: Se realizó una búsqueda sistematizada seleccionando estudios primarios en bases de datos electrónicas: Pub Med, biblioteca Cochrane e Hinari a través de la pregunta PICO. Resultados: 115 estudios fueron identificados a través de la búsqueda electrónica de estos solo 18 fueron elegibles según los criterios de inclusión. Conclusiones: Son múltiples los posibles factores sistémicos asociados con HMI, entre ellos resaltan complicaciones en el embarazo como: fiebres altas, hipertensión arterial, diabetes gestacional, procesos infecciosos, uso frecuente de antibióticos y desnutrición, así como parto prematuro, bajo peso al nacer y las enfermedades respiratorias, fiebre y otitis en los primeros años de vida del niño

O estudo da Hipomineralização nos molares e incisivos foi descrito pela primeira vez no ano de 1970, posteriormente no 2001 o termo Hipomineralização Molar Incisivo (HMI) foi sugerido pela Academia Europeia de Odontopediatria (EAPD) para se referir a este como um defeito específico do desenvolvimento do esmalte, já no ano 2003 se padronizaram os critérios de diagnóstico clínico. A HMI é um defeito do esmalte dentário amplamente estudado, no entanto até hoje os fatores de risco ainda não estão totalmente esclarecidos, mas se considera como de origem sistémico e multifatorial. As implicações sistémicas podem acontecer em períodos específicos (pre, peri e pós natal) que se consideram períodos importantes e críticos no desenvolvimento da vida humana. Objetivo: aportar a melhor evidencia científica disponível sobre os fatores sistémicos associados à Hipomineralização Molar Incisivo. Materiais e métodos: foi realizada uma busqueda sistematizada selecionando estudos primários em bases de dados eletrônicas: Pub Med, biblioteca Cochrane e Hinari a través da pergunta PICO. Resultados: 115 estudos foram identificados a través da busqueda eletrônica dos quais unicamente 18 foram elegíveis segundo os critérios de inclusão. Conclusões: São muitos os possíveis fatores sistémicos associados com HMI entre eles destacam complicações na gravidez como: febres altas, hipertensão arterial

The study of Hypomineralization in molars and incisors was described for the first time in the year 1970. Later in 2001, the term Molar Incisor Hypomineralization (MIH) was suggested by the European Academy of Paediatric Dentistry (EAPD) to refer to this as a specific enamel development defect, and in 2003, the clinical diagnostic criteria were standardized. MIH is a widely studied tooth enamel defect; however, to date, the risk factors are not conclusive but, it is considered of systemic and multifactorial origin. The systemic implications can occur in specific periods (pre, peri, and postnatal) considered important and critical periods of the development of human life. Objective: to provide the best available scientific evidence on the systemic factors associated with molar incisor Hypomineralization. Methodology: A systematized search was varied out selecting primary studies in electronic database: Pub Med, Cochrane and Hinari library, through the PICO question. Results: 115 studied were identified through the electronic search. Of these, only 18 were found eligible according to the inclusion criteria. Conclusions: There are multiple possible systemic factors associated with MIH. Among them, certain complications in pregnancy stand out, such as: Hugh fevers, arterial hypertension, gestational diabetes, infectious processes, frequent use of antibiotics and malnutrition, as well as premature delivery, low birth weight, and respiratory diseases, fever and otitis in the first years of the child's life

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)

Prevalence and predisponent factors of molar-incisor hypomineralization in primary dentition

Aim: To evaluate the prevalence and predisposing factors for hypomineralization of second molars in children in primary dentition. Methods: A questionnaire was applied to parents to analyze predisposing factors and to assist in the diagnosis of hypomineralization in children between 2 and 6 years old, followed by an intraoral examination based on indices of non-fluorotic enamel defects in the primary dentition, according to the "Modified Index DDE" to determine demarcated opacity and HSPM presence / severity index to assess hypomineralization. Children from public and private schools were dived into two groups: if they presented HSPM-Group 1 (G1) and if they did not have HSPM-Control group (CG). Results: The most frequent predisposing factors associated with the child were Illness in the first year of life (X2= 6.49; p=0.01) and antibiotic use in the first year of life (X2= 41.82; p= 0.01). The factors associated with the mother were hypertension (X2= 9.36; p=0.01), infections during pregnancy (X2=14.80; p=0.01) and alcohol consumption during pregnancy (X2=97.33; p=0.01). There was a prevalence of 3.9% of HSPM in 14 children, with statistical difference regarding gender (X2 = 4.57; p <0.05), with boys presenting a higher frequency. In G1 hypomineralization was of the type with demarcated opacity, with more prevalent characteristics the yellowish spot, with moderate post-eruptive fracture and acceptable atypical restorations. All lesions were located in the labial region with 1/3 of extension. Conclusion: The prevalence of HSPM in children between 2 and 6 years old was 3.9%, with a predominance in males, with tooth 65 being the most affected. There was an association between HSPM and infection in the first year of life, as well as the use of antibiotics and sensitivity in the teeth affected by the lesion. There was an association between HSPM and hypertension, infection and mothers' alcohol use during pregnancy

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.

Interdisciplinary Approach of Amelogenesis Imperfecta: 10 Years of Clinical Follow-Up / Abordagem Interdisciplinar da Amelogênese Imperfeita: 10 Anos de Acompanhamento Clínico

Amelogenesis imperfecta (AI) is an inherited disease that expresses a disorder in the development of enamel structure. In its mildest form, it promotes tooth color change; and in more severe cases, it presents a loss of enamel structure initiated during the eruption phase. Different AI manifestations can coexist in the same patient or in the same tooth, both in the primary and permanent dentures. In addition, several subtypes are described, characterized according to the variety of phenotype and genotype. Successful treatment requires early diagnosis and therapeutic solutions involving different dental specialties. Although some professionals prefer to postpone permanent rehabilitation until the development of complete permanent dentures, the aesthetic and functional impact of this disease in childhood and adolescence requires that restorative treatment be started as soon as possible. The proposed therapies demonstrate numerous challenges such as extreme dentinal sensitivity, difficulties installing and maintaining the orthodontic appliance and the need for restorative and prosthetic intervention in malformed teeth. This work aims to demonstrate the interaction between Orthodontics, Restorative Dentistry and Prosthesis in the treatment of a patient with AI, reporting the success of treatment involving aesthetics, function and well-being and the long-term benefit of this interdisciplinary approach for patients with this disease. (AU)

A amelogênese imperfeita (AI) é uma doença hereditária que expressa uma desordem no desenvolvimento da estrutura do esmalte. Na sua forma mais branda, promove alteração na cor dos dentes; e em casos mais severos, apresenta perda de estrutura do esmalte iniciada durante a fase de irrupção. Diferentes manifestações da AI podem coexistir no mesmo paciente ou no mesmo dente, tanto na dentadura decídua quanto na permanente. Além disso, são descritos diversos subtipos, caracterizados de acordo com a variedade do fenótipo e genótipo. O sucesso do tratamento requer diagnóstico precoce e soluções terapêuticas que envolvam diversas especialidades odontológicas. Embora alguns profissionais prefiram adiar a reabilitação definitiva até o desenvolvimento da dentadura permanente completa, o impacto estético e funcional desta doença na infância e adolescência exige que o tratamento restaurador seja iniciado o mais cedo possível. As terapias propostas demonstram inúmeros desafios como a sensibilidade dentinária extrema, as dificuldades para instalação e manutenção do aparelho ortodôntico e a necessidade de intervenção restauradora e protética em dentes com má formação. O presente trabalho tem como finalidade demonstrar a interação entre a Ortodontia, a Dentística Restauradora e a Prótese no tratamento de um paciente com AI, relatando o sucesso do tratamento envolvendo estética, função, bem estar e o benefício em longo prazo desta abordagem interdisciplinar para os portadores desta doença. (AU)

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)

A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett- like phenotype: Kohlschütter- Tönz syndrome

@#Kohlschütter-Tönz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic for amelogenesis imperfecta, and dysmorphologies. Genetic analysis has identified loss of function mutations within the coding region of the ROGDI and SLC13A5 genes in KTZS. In this report, we documented the clinical, radiological, electroencephalographic, and genetic results of a 3.5-year-old Turkish girl, born to nonconsanguineous parents, who was the first patient diagnosed with KTZS in Turkey. The patient presented with Rett syndrome-like phenotype, neurodevelopmental delay, refractory seizures, and amelogenesis imperfecta. After obtaining informed consent, chromosomal DNAwas extracted from the peripheral blood of our patient and her parents. To investigate the moleculardiagnosis of the patient, the clinical exome sequencing was performed. The Sanger sequencing analysiswas performed for all of the family members for the validation and segregation of this mutation. PubMed/Medline, Web of Science, and Google Scholar were also searched to find all of the publisheddata on KTZS. The literature comprises 18 published studies about KTZS. The genetic analysis of ourpatient revealed a novel homozygous c.201-1G>T mutation in the ROGDI gene. The same mutationwas also found to be heterozygous in her mother and father. The mutation caused alternative splicingof the ROGDI translation and resulted in a disruption of the ROGDI protein.

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.

The effect of amoxicillin on dental enamel development in vivo

Abstract The exposure to amoxicillin has been associated with molar incisor hypomineralization. This study aimed to determine if amoxicillin disturbs the enamel mineralization in in vivo experiments. Fifteen pregnant rats were randomly assigned into three groups to received daily phosphatase-buffered saline or amoxicillin as either 100 or 500 mg/kg. Mice received treatment from day 13 of pregnancy to day 40 postnatal. After birth, the offsprings from each litter continued to receive the same treatment according to their respective group. Calcium (Ca) and phosphorus (P) content in the dental hard tissues were analyzed from 60 upper first molars and 60 upper incisors by the complexometric titration method and colorimetric analysis using a spectrophotometer at 680 nm, respectively. Lower incisors were analyzed by X-ray microtomography, it was measured the electron density of lingual and buccal enamel, and the enamel and dentin thickness. Differences in Ca and P content and electron density among the groups were analyzed by one-way ANOVA. There was no significant difference on enamel electron density and thickness among the groups (p > 0.05). However, in incisors, the higher dose of amoxicillin decreased markedly the electron density in some rats. There were no statistically significant differences in Ca (p = 0.180) or P content (p = 0.054), although the higher dose of amoxicillin could affect the enamel in some animals. The amoxicillin did not significantly alter the enamel mineralization and thickness in rats.

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.

Odontodisplasia Regional y Agenesia de Premolares. Reporte de un Caso / Regional Odontodysplasia and Premolar Agenesis. Case Report

RESUMEN: La odontodisplasia regional (OR) es una alteración en el desarrollo, no hereditario y que afecta tanto la dentición temporal como la dentición definitiva. Involucra a los tejidos mesodérmicos y ectodérmicos de los dientes lo que es condescendiente con hallazgos clínicos, radiográficos e histológicos. Su etiología aun es desconocida y se presenta mayoritariamente en mujeres. Clínicamente puede afectar al maxilar, a la mandíbula o ambas arcadas pero generalmente solo se ve comprometida una ellas, principalmente el más afectado es el hueso maxilar. Radiográficamente se observa una pobre diferencia entre los tejidos del esmalte y la dentina, siendo tejidos menos radiopacos que su contraparte sana generando un aspecto descrito como "diente fantasma". Histológicamente se observan zonas hipocalcificadas del esmalte con un orden de prismas irregulares mientras que la dentina se observa con un número reducido de túbulos dentinarios y de consistencia más fibrosa en su zona coronal. El tratamiento de la OR es controversial ya que su incidencia es baja y la literatura al respecto no es clara. El objetivo de este manuscrito, fue reportar un caso de OR y revisar la literatura relacionada. Presentamos un caso de OR en una paciente de 12 años que presenta ausencia de los dientes 2.4, 2.5 y 2.6; restos radiculares y agenesia de los dientes 3.5 y 4.5. Se describirán sus aspectos clínicos, radiográficos e histológicos. Se realizó una búsqueda sistemática en las siguientes bases de datos: Clínical key, Science Direct, PubMed y SciELO.

ABSTRACT: Regional odontodysplasia (RO) is a variation in the development; it is not hereditary and it affects both deciduous and permanent dentition. It involves the mesodermal and ectodermal tissues of dental pieces, and coincides with clinical, radiographic and histological findings. Its etiology is still unknown and it reportedly occurs mostly in women. Clinically it can affect the maxilla, mandible or both arches but generally only one is compromised, mainly the maxilla which is affected the most. Radiographically there is limited difference between enamel and dentin tissue, which is less radiopaque than their healthy counterpart, generating an aspect described as "phantom tooth". Histologically hypocalcified areas of the enamel are observed with an irregular order of prisms while the dentine is observed with a reduced number of dentinal tubules and more fibrous consistency in the coronal area. RO treatment is controversial since its incidence is low and the literature on these events is not clear. The aim of this manuscript was to report a case of RO and review related literature. We present a case of RO in a 12-year-old patient who presents absence of parts 2.4.2.5 and 2.6; radicular remains and agenesis of parts 3.5 and 4.5. Its clinical, radiographic and histological aspects are described. A systematic search was carried out in the following databases: Clinical key, Science Direct, PubMed and SciELO.

Estudo morfológico do efeito do trauma mecânico sobre a amelogênese em incisivos de ratos / Morphological study of the effect of mechanical trauma on amelogenesis in rat incisors

Introdução: a amelogênese compreende a formação do esmalte por células especializadas denominadas ameloblastos. Os ameloblastos secretam proteínas da matriz e são responsáveis pela criação de um ambiente extracelular que favorece a mineralização do esmalte. Contudo, diversos fatores, como o trauma dentário, podem interferir na amelogênese, contribuindo para a formação de um esmalte defeituoso. O trauma dentário tem sido responsável por muitos casos de hipoplasia que podem fragilizar o dente, além de trazer desconforto estético. Objetivo: examinar as alterações morfológicas sobre o epitélio odontogênico e a matriz de esmalte de incisivos de ratos, produzidas por um trauma dentário. Metodologia: incisivos de ratos foram extruídos e depois reposicionados em seus alvéolos originais. Decorridos 3, 7, 10, 20, 30 e 60 dias do procedimento cirúrgico, os dentes foram fixados em uma solução de formaldeído e glutaraldeído, processados histologicamente e corados com azul de toluidina. Resultados: a análise morfológica revelou a formação de uma matriz de esmalte bastante heterogênea, com espessura irregular, particularmente na porção mais apical dos incisivos. Algumas matrizes de esmalte expostas mostravam pequenas lacunas de reabsorção, muitas vezes com deposição de um material cementoide. Conclusão: o presente estudo mostrou que o trauma foi suficiente para produzir alterações hipoplásicas e de hipomineralização importantes no esmalte que se relacionaram com a fase funcional dos ameloblastos na região afetada.

Introduction: amelogenesis comprises of enamel formation by specialized cells called ameloblasts. Ameloblasts secrete matrix proteins and are responsible for the creation of an extracellular environment that favors the enamel mineralization. However, various factors, such as the dental trauma, can interfere with amelogenesis, contributing to the formation of a defective enamel. Dental trauma has been responsible for many cases of hypoplasia which can weaken the tooth, in addition to bringing aesthetic discomfort. Objective: examine the morphological changes on the odontogenic epithelium and the enamel matrix of rats incisors, produced by dental trauma. Methodology: rats incisors were extruded and then repositioned in their original alveoli. After 3, 7, 10, 20, 30 and 60 days of the surgical procedure, teeth were fixed in a solution of formaldehyde and glutaraldehyde, processed histologically and stained with toluidine blue. Results: the morphological analysis revealed the formation of enamel matrix extremely heterogeneous, with irregular thickness, particularly on the apical portion of the incisors. Some matrixes of exposed enamel showed small gaps of reabsorption, often with deposition of cementoid material. Conclusion: the present study showed that the trauma was enough to produce hypoplastic and hypomineralization changes important in the enamel that were related to the functional phase of the ameloblasts in the affected region

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.

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.

Microabrasão do esmalte dentário: eficácia e aplicações na odontologia / Dental enamel microabrasion: effectiveness and applications in dentistry

Introdução: A microabrasão proporciona a remoção de manchas e irregularidades na superfície do esmalte, através da associação da ação erosiva de ácidos, como o ácido fosfórico ou ácido clorídrico, e a ação abrasiva de substâncias como pedra pomes (carbeto de silício), por meio de esfregaço. O sucesso da técnica depende da profundidade do esmalte manchado, sendo mais facilmente removidas as manchas situadas mais externamente nas camadas do esmalte. Objetivo: Este trabalho tem como objetivo avaliar a partir de uma revisão de literatura a eficácia e aplicabilidade desse método no tratamento clínico, analisando o potencial de resolutividade segundo os estudos que fundamentam sua eficiência. Materiais e Métodos: Foi realizada uma revisão bibliográfica nas bases de dados Bireme, Pubmed e Google acadêmico, abrangendo artigos de pesquisa e de relato de caso de 2013 a 2018, utilizando os descritores: Esmalte dentário, Microabrasão do esmalte, Fluorose dentária, Amelogênese imperfeita. Conclusão: Verificou-se que a microabrasão do esmalte dentário é uma alternativa eficaz no tratamento de alterações cromáticas localizadas na camada superficial do esmalte, tendo em vista que, além de ser um método conservador, promove resultados satisfatórios imediatamente após sua aplicação, entretanto, para o tratamento de alterações de maior profundidade, pode ser necessário associar a técnica da microabrasão a outros procedimentos estéticos.

Introducion: Microabrasion provides the removal of stains and irregularities on the surface of the enamel by associating the erosive action of acids, such as phosphoric acid or hydrochloric acid, and the abrasive action of substances such as pumice (silicon carbide) by smearing. Objective: This study aims to evaluate, by way of a literature review, the efficacy and applicability of this method in clinical treatment, analyzing the potential of resolution according to studies that support its efficiency. Materials and Methods: A bibliographic review was conducted in the databases Bireme, Pubmed and Google Scholar, covering research articles and case reports from 2013 to 2018, using the descriptors: Dental Enamel, Enamel microabrasion, Dental Fluorosis, Amelogenesis imperfecta. Conclusion: It was verified that the microabrasion of the dental enamel is an effective alternative in the treatment of localized chromatic alterations in the superficial layer of the enamel considering that, besides being a conservative method, it promotes satisfactory results immediately after its application. However, for the treatment of alterations of greater depth, it may be necessary to associate the microabrasion technique with other aesthetic procedures.

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.