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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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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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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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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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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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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.

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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.

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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.

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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.

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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.

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This chapter describes methods related to the diagnosis of genetic dental diseases. Based on the present knowledge, clinical phenotyping and next-generation sequencing techniques are discussed. Methods necessary for Sanger sequencing, multiplex ligation-dependent probe amplification, and epigenetic modification methods are detailed. In addition, protocols for cell culture establishment and characterization from patients with inherited dental anomalies are described.

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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.

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