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BACKGROUND: Junctional epidermolysis bullosa (JEB) is one of the four major types of EB caused by genetic variants in the genes coding the proteins of the lamina lucida. All patients with this major type of EB present syndromic hypoplastic amelogenesis imperfecta (AI), with either a pits and fissures or generalized hypoplastic phenotype. Severe forms of AI are associated with compromised oral health-related quality of life (QoL) mostly due to poor dental aesthetics, dentofacial anomalies, and oral pain. AIM: To present the comprehensive dental treatment of a patient with JEB and AI from the age of 20 months until the age of 18 years, including complex orthodontics and digital oral rehabilitation. MATERIALS AND METHODS: A male patient with intermediate JEB (homozygous c.3228+1G>A LAMB3 variant) has been under the care of the special care dentistry clinic of the University of Chile since the age of 20 months. His complex dental needs include structural enamel abnormalities in primary and permanent dentition (hypoplastic generalized AI), severe dental crowding with maxillary compression, Class III skeletal pattern, agenesia (#45), and gingivitis. RESULTS: Pediatric dental care included oral hygiene education and preventive strategies (prophylaxis and fluoride applications), maintaining the dentition free of caries. Due to AI, severe tooth sensitivity hindered proper oral hygiene and required early rehabilitation with temporary polycarbonate and metallic crowns. At the age of 16, the patient began orthodontic treatment. A maxillary expansion was performed with two consecutive mini-implant assisted rapid palate expansion (MARPE) bonded to four mini-implants in the palate. After finishing orthodontic treatment metallic multibrackets (duration 19 months), a definitive oral rehabilitation based on digital smile design with feldspathic crowns of all anterior teeth and premolars was performed. CONCLUSION: Patients with severe generalized hypoplastic syndromic AI associated with JEB benefit from long-term preventive oral care. Complex orthodontic techniques, such as MARPE, and multibrackets can be successfully. Digital smile design provides a definitive oral rehabilitation technique improving oral function, aesthetics, and QoL.

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BACKGROUND: Developmental defects of enamel (DDE) are a result of disturbances during formation and maturation of the enamel. Evaluating the most-cited DDE papers can provide important tools that point to the gaps and strengths of this important topic in dentistry. SUMMARY: This bibliometric study analyzed the 100 most-cited papers on DDE. Using a combined keyword search strategy, the 100 most-cited papers were selected in the Web of Science Core Collection. Papers that addressed any type of DDE were included. The extracted data were title, number of citations, study theme, authorship, journal, type of DDE, type of dentition (primary or permanent), type of diagnosis, study design, year, and country of publication. The bibliometric networks were generated through VOSviewer software. The 100 papers had a range from 78 to 459 citations. The main themes of studies were etiopathogenesis (53%), prevalence and incidence (22%), and diagnosis (8%). The authors with the highest number of citations were Goodman AH and Rose JC (459 citations). Most articles were published in dental journals (47%). The most studied types of DDE were fluorosis and amelogenesis imperfecta in the permanent dentition (47%). Observational (24%) and non-systematic reviews (24%) were the most common study designs and ranged from 1977 to 2019. The country with the highest number of publications was the USA (41%). KEY MESSAGES: Most of the top 100 DDE papers were about fluorosis and amelogenesis imperfecta, with top papers from three continents with English as the native language. This topic is of great importance in dentistry, and the need for further studies is highlighted, especially regarding the diagnosis and treatment of some DDEs.

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We performed a study to present a phenotypic and genotypic characterization of a patient clinically diagnosed with carbonic anhydrase II (CAII) deficiency syndrome. Medical records were reviewed, and oral examination was performed. Sanger sequencing was undertaken for molecular diagnosis. The patient presented with osteopetrosis, renal tubular acidosis, cerebral calcification, blindness, deafness, and development delay. The oral manifestations included anterior open bite, posterior crossbite, tooth eruption impairment, and hypoplastic amelogenesis imperfecta (AI). Molecular analysis revealed a CA2 homozygous deletion (c.753delG, p.Asn252Thrfs*14) and confirmed the clinical diagnosis. This study suggests that AI can be another feature of CAII deficiency syndrome. For the first time, a CA2 disease-causing variant is reported to be associated with syndromic AI.

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The main origin of amelogenesis imperfecta (AI) is a genetic alteration inherited by a family member which affects the dental enamel of the teeth of a person with this condition in various ways. The present clinical case from the Teaching Dental Clinic of the Peruvian University Cayetano Heredia is of a 6-year 5-month-old male child who came to the dental office accompanied by his father and 8-year-old sister, diagnosed with the same AI condition. The comprehensive treatment proposed for this patient was determined by radiographic and clinical examinations and consultations with specialists in different areas. The purpose of this publication was to report a case and describe possible clinical approaches.

El principal origen de la amelogénesis imperfecta (AI) es una alteración genética heredada por un familiar que afecta de diversas formas el esmalte dental de los dientes de una persona con esta afección. El presente caso clínico de la Clínica Odontológica Docente de la Universidad Peruana Cayetano Heredia se trata de un niño de sexo masculino de 6 años 5 meses que acude al consultorio odontológico acompañado de su padre y su hermana de 8 años, diagnosticados con la misma condición de AI. El tratamiento integral propuesto para este paciente estuvo determinado por exámenes radiográficos, clínicos y consultas con especialistas en diferentes áreas. El propósito de esta publicación fue reportar un caso y describir posibles enfoques clínicos.

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OBJECTIVE: To determine if native Colombian Piper marginatum Jacq. and Ilex guayusa Loes plant extracts have a remineralizing effect on teeth with Amelogenesis imperfecta in comparison with the commercial products Clinpro-3M and Recaldent™. MATERIAL AND METHODS: An in vitro study was carried out with 128 human teeth slices (64 healthy and 64 with Amelogenesis imperfecta) on which an initial Raman spectroscopy was performed followed by Raman spectroscopies at 0, 24, 48, and 72 h to determine possible remineralization by observing mineral increase or decrease as a result of P. marginatum Jacq. and I. guayusa Loes extract application in comparison to control substance (Clinpro and Recaldent™) application. Obtained data were analyzed using a bivariate method with a t unidirectional test. Significant differences among groups were determined by an ANOVA with Dunnett post hoc tests. RESULTS: Native I. guayusa Loes and P. marginatum Jacq. Colombian plants extracts exhibited phosphate and orthophosphate mineral apposition, where P. marginatum Jacq. presented better results. CONCLUSIONS: Native Colombian I. guayusa Loes and P. marginatum Jacq plant extract might in the future be useful for dental tissue remineralization, as they induced phosphate and orthophosphate mineral apposition, main components of tooth enamel. These types of natural compounds can become an alternative to fluorine, whose ingestion is harmful to the human body.

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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

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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)

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A amelogênese imperfeita (AI) é uma condição de origem genômica que causa um defeito na estrutura dentária, se apresentando exclusivamente no esmalte e, altera tanto sua formação quanto seu conteúdo. Ela se manifesta na dentição decídua e permanente e é hereditária, podendo se apresentar de quatro formas que foram classificadas como: Hipoplásica (tipo I), Hipomaturada (tipo II), Hipocalcificada (tipo III) e Hipomaturada-Hipoplásica com Taurodontismo (tipo IV). Elas apresentam alteração na tonalidade e podem envolver cores que variam do branco opaco, branco- amareladas, amarelo ao marrom-amarelado e ou marrom. O presente estudo, tem como objetivo apresentar um relato de caso de reabilitação oral, funcional e estética em paciente portador de amelogenese imperfeita do tipo hipomaturada. Foi apresentado um plano de tratamento para este tipo de paciente, com uma técnica para alteração de dimensão vertical de oclusão (DVO). Modelos superior e inferior foram obtidos com o objetivo de realizar uma montagem em articulador semi-ajustável para enceramento diagnóstico e planejamento do caso. Foi proposto uma alteração de DVO para mais com a confecção de restaurações provisórias resina acrílica auto polimerizável pela técnica da pré moldagem a partir do enceramento e também na técnica da faceta com dente de estoque nos dentes anteriores. Desta forma, a terapia proposta poderemos restabelecer a função mastigatória e a estética ao paciente, contribuindo assim, para elevação de sua autoestima e melhoria na qualidade de vida.

Amelogenesis imperfecta (AI) is a condition of genomic origin that causes a defect in the tooth structure, presenting exclusively in the enamel and altering both its formation and its content. It manifests itself in the deciduous and permanent dentition and is hereditary, and can present in four ways that have been classified as: Hypoplastic (type I), Hypomaturated (type II), Hypocalcified (type III) and Hypomature-Hypoplastic with Taurodontism (type IV). They present a change in tonality and may involve colors ranging from opaque white, yellowish white, yellow to yellowish-brown and/or brown. The present study aims to present a case report of oral, functional and aesthetic rehabilitation in a patient with hypomature amelogenesis imperfecta. A treatment for this type of patient was presented, with a technique for altering the vertical dimension of occlusion (DVO). Assembly was carried out in a semi-adjustable articulator, diagnostic wax-up for case planning, alteration of DVO to more, provisional making from wax-up with pre-molding and from the veneer technique with stock tooth. In this way, the proposed therapy reestablished masticatory function and restored aesthetics to the patient, thus contributing to raising their self-esteem and improving their quality of life.

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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

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In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and severe enamel and dental anomalies. Pathogenic variants in the latent transforming growth factor-ß binding protein 3 (LTBP3) gene have been found implicated in the pathogenesis of this disorder. So far, biallelic pathogenic LTBP3 variants have been identified in less than 10 families. We here report a young boy born from consanguineous parents with a complex phenotype including skeletal dysplasia associated with aortic stenosis, hypertrophic cardiomyopathy, hypodontia and amelogenesis imperfecta caused by a previously unreported homozygous LTBP3 splice site variant. We also compare the genotypes and phenotypes of patients reported to date. This work provides further evidence that brachyolmia with amelogenesis imperfecta is a distinct nosologic entity and that variations in LTBP3 are involved in its pathogenesis.

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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.

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The enamel renal syndrome (ERS) is a rare autosomal recessive disease that is associated with mutations in the FAM20A gene. The syndrome is characterized by impaired amelogenesis of the hypoplastic type and nephrocalcinosis, presenting with presence of thin or absence of enamel, late dental eruption, intrapulpal calcifications, bilateral nephrocalcinosis, and normal plasma calcium level. The objective is to characterize ERS by systematically literature reviewing, highlighting the main findings of the syndrome to increase knowledge about this condition in the health professionals. The study is a systematic review of the scientific literature, whose research was developed in the PubMed database in March 2018. A total of 69 articles were found. Two authors analyzed their abstracts and selected, according to the language and main subject, 30 articles to write this study. A total of 69 patients were cited in the studies and their data were analysed. There was gender equivalence and the ages ranged from 1 to 64 years old. There is a clear hereditary relation of the syndrome, since there was consanguinity in 18 cases, indicating a percentage of 26.08% and family history in 30 cases (43.47%). Laboratory changes vary greatly from patient to patient and may even remain unchanged. The relationship between the syndrome and the mutation in the FAM20A gene can be proven from the data, since all patients with ERS screened by the mutation were positive. With the advancement of the ERS studies, some associations with the syndrome are suspected, such as the presence of gingival fibromatosis, hearing loss, and hypertrichosis. Thus, it is noticed that the syndrome does not show a predilection for gender or age and there is a strong hereditary character, marked by the consanguinity and family history of the patients. The association with the FAM20A gene is reinforced, since the mutation was identified in all patients analyzed.

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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)

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Fluoride has been considered as the single factor most frequently responsible for causing enamel mottling. However, in humans, either endogenous and/or exogenous factors not related to fluoride exposure may also cause enamel mottling. In this sense, various studies in the international literature have reported severe mottling of the teeth that could not be attributed to fluoride exposure. Thus, misdiagnosis of non-fluoride-induced enamel defects may occur frequently. Reports of unexpectedly high population prevalence and individual cases of fluorosis, where such diagnoses are irreconcilable with the identified fluoride history, highlight the necessity for a more precise definition and diagnosis of dental fluorosis. Also, a more discriminating diagnostic procedure is suggested. Particularly, positive identification of environmental fluoride levels to which the communities and individuals are exposed shall be developed before the confirmation of a diagnosis of fluorosis. It is considered that a more critical methodology for the diagnosis of fluorosis will be helpful in the rational use and control of fluorides for dental health, and in the identification of factors that may induce enamel defects.

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease caused by mutations in the CLDN16 or CLDN19 gene; however, few cases develop classical amelogenesis imperfecta. Herein, we report the case of a boy with early clinical renal manifestations that started at 1 year of age and presenting with dental hypoplasia and growth delay. The patient presented with vomiting, polyuria, and polydipsia. Apart from recurrent sterile leukocyturia, erroneously treated as infectious, he was normal, except for short stature and amelogenesis imperfecta with gradually discolored teeth. Laboratory tests revealed hyperparathyroidism, hypomagnesemia, severe hypercalciuria, and hypermagnesuria on 24-h urine testing. Helical computed tomography confirmed nephrocalcinosis. We performed whole-exome sequencing (WES) to test the hypothesis of FHHNC and oligogenic inheritance of amelogenesis. Analysis of the WES binary sequence alignment/map file revealed the presence of exon 1 of the CLDN16 and absence of the other exons [c.325_c918*? (E2_E5del)]. We confirmed a CLDN16 E2_E5 homozygous deletion by multiplex ligation-dependent probe amplification and polymerase chain reaction assays. Although most mutations causing FHHNC are missense and nonsense mutations in the CLDN16 or CLDN19 gene, large deletions occur and may be misled by WES, which is generally used for genetic screening of oligogenic disorders. The patient received cholecalciferol, magnesium oxide and potassium citrate. Later, the combination with hydrochlorothiazide plus amiloride was prescribed, with a good response during follow-up. Our report broadens the phenotype of FHHNC, including severe early-onset amelogenesis and short stature, and reinforces the phenotype-genotype correlation of the large deletion found in CLDN16.

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With increasing life expectancy, demands for dental tissue and whole-tooth regeneration are becoming more significant. Despite great progress in medicine, including regenerative therapies, the complex structure of dental tissues introduces several challenges to the field of regenerative dentistry. Interdisciplinary efforts from cellular biologists, material scientists, and clinical odontologists are being made to establish strategies and find the solutions for dental tissue regeneration and/or whole-tooth regeneration. In recent years, many significant discoveries were done regarding signaling pathways and factors shaping calcified tissue genesis, including those of tooth. Novel biocompatible scaffolds and polymer-based drug release systems are under development and may soon result in clinically applicable biomaterials with the potential to modulate signaling cascades involved in dental tissue genesis and regeneration. Approaches for whole-tooth regeneration utilizing adult stem cells, induced pluripotent stem cells, or tooth germ cells transplantation are emerging as promising alternatives to overcome existing in vitro tissue generation hurdles. In this interdisciplinary review, most recent advances in cellular signaling guiding dental tissue genesis, novel functionalized scaffolds and drug release material, various odontogenic cell sources, and methods for tooth regeneration are discussed thus providing a multi-faceted, up-to-date, and illustrative overview on the tooth regeneration matter, alongside hints for future directions in the challenging field of regenerative dentistry.

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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)

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AIMS: To assess dental maturation in children with amelogenesis imperfecta (AI) and compare their estimated dental age with the age of non-AI children. METHODS AND RESULTS: Panoramic radiographs of children with (n = 27) and without (n = 54) AI were retrospectively collected in the ratio of 1:2. The former consisted of case group, while the latter figured as control group. Both groups were paired by sex and age (P > .05). Dental maturation was assessed in each radiograph using Demirjian's staging technique and Willems' method. Intra- and interexaminer reproducibility reached >0.8. The mean estimated dental age in subjects with AI was 12.5 ± 2.69 years, while in subjects without AI it was 11.73 ± 2.48 years (P = .21). The comparison of mean chronological (12.26 ± 2.6 years) and estimated dental age (12.5 ± 2.69 years) in subjects with AI did not reveal statistically significant differences (P = .38). CONCLUSION: This study highlights the similarity of dental maturation between subjects with and without AI from the radiographic perspective of crown-root formation.

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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.

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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.

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