[Recognition on dentin dysplasia type â ¡].

Dentin dysplasia type Ⅱ (DD-Ⅱ) is a subtype of hereditary dentin disorders. The dentin sialophosphoprotein (DSPP) gene has been revealed to be the causative gene, whose mutations could affect the normal tooth development process. The lesions involve both deciduous and permanent dentition, mainly manifested as tooth discoloration, attrition and even the subsequent malocclusion. If not treated in time, it will significantly affect the physical and psychological health of patients. The disease is difficult to be diagnosed in clinic accurately as its low incidence and hidden manifestations. The present article aims to discuss the clinical and radiographic characteristics, diagnosis, treatment of DD-Ⅱ, in order to improve the overall understanding on DD-Ⅱ for clinicians.

A Review of Dentinogenesis Imperfecta and Primary Dentin Disorders in Dogs.

This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two unrelated young dogs without evidence of concurrent osteogenesis imperfecta. The dentition was noted to have generalized coronal discoloration ranging from grey-blue to golden brown. Clinical pulp exposure, coronal wear and fractures were observed as was radiographic evidence of endodontic disease, thin dentin walls or dystrophic obliteration of the pulp canal. The enamel was severely affected by attrition and abrasion despite histologically normal areas; loss was most likely due to poor adherence or support by the underlying abnormal dentin. Histologically, permanent and deciduous teeth examined showed thin, amorphous dentin without organized dentin tubules and odontoblasts had dysplastic cell morphology. Primary dentin disorders, including dentinogenesis imperfecta and dentin dysplasia, have been extensively studied and genetically characterized in humans but infrequently reported in dogs. Treatment in human patients is aimed at early recognition and multi-disciplinary intervention to restore and maintain normal occlusion, aesthetics, mastication and speech. Treatment in both humans and canine patients is discussed as is the documented genetic heritability of primary dentin disorders in humans.

Dentinogenesis imperfecta type 2: a case report.

Dentinogenesis imperfecta type 2, also referred to as Capdepont teeth and hereditary opalescent dentin, is a rare hereditary dysplasia affecting the dentin that occurs during the histodifferentiation stage of tooth development. The resulting brownish gray opalescent hue creates an unesthetic appearance. This form of dentin anomaly occurs in approximately 1 in 8000 individuals in the United States. Teeth affected by hereditary dentin dysplasia chip easily, even under normal masticatory forces; however, as a result of underlying sclerotic dentin formation and obliteration of pulp chambers in response to attrition, these teeth are not hypersensitive. This case report describes this rare anomaly in a 27-year-old woman, whose discolored teeth were restored with ceramic laminate veneers.

Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.

OBJECTIVE: To investigate the genetic etiology of skeletal dysplasia in highly selected fetuses during the first and second trimesters using deep phenotyping and exome sequencing (ES). METHOD: Fetuses with short femurs were identified using the established prenatal diagnostic approach. A multidisciplinary team reviewed fetal phenotypic information (prenatal ultrasound findings, fetal postmortem, and radiographs) in a cohort of highly selected fetuses with skeletal dysplasia during the first and second trimesters. The affected families underwent multiplatform genetic tests. RESULTS: Of the 27 affected fetuses, 21 (77.8%) had pathogenic or potential pathogenic variations in the following genes: COL1A1, FGFR3, COL2A1, COL1A2, FLNB, DYNC2LI1, and TRIP11. Two fetuses had compound heterozygous mutations in DYNC2LI1 and TRIP11, respectively, and the other 19 carried de novo autosomal dominant variants. Novel variants were identified in COL1A1, COL2A1, COL1A2, DYNC2LI1, and TRIP11 in 11 fetuses. We also included the first description of the phenotype of odontochondrodysplasia in a prenatal setting. CONCLUSIONS: ES or panel sequencing offers a high diagnostic yield for fetal skeletal dysplasia during the first and second trimesters. Comprehensive and complete phenotypic information is indispensable for genetic analysis and the expansion of genotype-phenotype correlations in fetal skeletal abnormalities.

Dentinogénesis imperfecta tipo II: Reporte de caso de dos pacientes de un mismo grupo familiar / Dentinogenesis imperfecta type II: Case report of two patients from the same family group

Resumen Introducción: La dentinogenesis imperfecta (DI) se ha definido como una alteración hereditaria de carácter autosómico dominante, que se origina durante la etapa de histodiferenciación en el desarrollo dental, es un tipo de displasia del tejido dentinario que afecta la estructura de la dentina de una o ambas denticiones. Las complicaciones de la DI tiene un fuerte impacto en la calidad de vida de los pacientes ya que la parte funcional, estética y fonética se suelen encontrar afectadas y representan un reto importante para el tratante. El diagnóstico precoz y el tratamiento adecuado son necesarios para lograr mejores resultados funcionales y estéticos, minimizar las deficiencias nutricionales y trastornos psicosociales, permitiendo así mejorarla calidad de vida de la persona. Objetivo: Determinar el tipo de dentinogenesis, la relación familiar, y las características clínicas de cada paciente. Métodos: Acuden a la clínica de Odontología de la Universidad Católica de Cuenca, dos Hermanos procedentes de la ciudad de Cuenca-Ecuador, de las edades de 5 y 6 años respectivamente, por presentar múltiples lesiones cariosas, se puede evidencia destrucción generalizada del remanente coronario y pérdida prematura de las piezas dentales. Después de realizar el diagnóstico clínico y radiográfico, historia familiar, se estableció el diagnóstico de dentinogenesis imperfecta tipo II. Conclusión: es de gran importancia el diagnóstico oportuno y temprano de la dentinogenesis imperfecta para un tratamiento adecuado, debido a que la DI, afecto de mayormente a la dentición temporal, es fundamental las visitas al odontólogo, ya que este podrá diagnosticar tempranamente la patología y evitar grandes daños.

Abstract Introduction: Dentinogenesis imperfecta (DI) has been defined as a hereditary alteration of autosomal dominant character, which originates during the stage of histodifferentiation in dental development, is a type of dysplasia of dentinal tissue that affects the dentine structure of one or both dentitions. The complications of ID have a strong impact on the quality of life of patients since the functional, aesthetic and phonetic part are usually affected and represent an important challenge for the trafficker. Early diagnosis and adequate treatment are necessary to achieve better functional and aesthetic results, minimize nutritional deficiencies and psychosocial disorders, thus improving the quality of life of the person. Objective: To determine the type of dentinogenesis, the family relationship, and the clinical characteristics of each patient. Methods: Two brothers coming from the city of Cuenca-Ecuador, ages 5 and 6 years old, come to the Odontology clinic of the Catholic University of Cuenca, respectively, for presenting multiple carious lesions. Generalized destruction of the coronary remnant and premature loss of teeth. After performing the clinical and radiographic diagnosis, family history, the diagnosis of dentinogenesis imperfecta type II was established. Conclusion: the timely and early diagnosis of dentinogenesisimperfecta is of great importance for an adequate treatment, because the ID, affected mainly by the primary dentition, is fundamental visits to the dentist, since this will be able to diagnose the pathology at an early stage. Avoid big damages.

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440-1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.

Dentin dysplasia type I-A dental disease with genetic heterogeneity.

Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2. Mutations of the DSPP gene, which encodes the dentin sialophosphoprotein, a major non-collagenous protein, are responsible for three isolated dentinal diseases: DGI-II, DGI-III, and DD-II. However, DD-I appears to be special in that researchers have found three pathogenicity genes-VPS4B, SSUH2, and SMOC2-in three affected families from different countries. It is believed that DD-I is a genetically heterogeneous disease and is distinguished from other types of dentin disorders. This review summarizes the DD-I literature in the context of clinical appearances, radiographic characteristics, and functions of its pathogenic genes and aims to serve clinicians in further understanding and diagnosing this disease.

Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults.

Osteogenesis imperfecta (OI) is a disease causing bone fragility; however, it potentially affects all organs with a high content of collagen, including ears, teeth, and eyes. The study is cross-sectional and compares non-skeletal characteristics in adults with OI that clinicians should be aware of when caring for patients with OI. INTRODUCTION: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. The skeletal fragility is pronounced; however, OI leads to a number of extra-skeletal symptoms related to the ubiquity of collagen type 1 throughout the human body. The vast majority of knowledge is derived from studies performed in the pediatric population. Thus, we aimed to investigate the nature and prevalence of ophthalmologic, odontologic, and otologic phenotypes in an adult population with OI. METHODS: The study population comprises 85 Danish OI patients (age 44.9 ± 15.9 years). Fifty-eight patients had OI type I, 12 OI type III, and 15 OI type IV according to the classification by Sillence. Audiometric evaluations and dental examinations were performed in 62 and 73 patients, respectively. Ophthalmologic investigations were performed in 64 patients, including measurements of the central corneal thickness. RESULTS: All patients, except two, had corneal thickness below the normal reference value. Patients with OI type I and patients with a quantitative collagen defect had thinner corneas compared to patients with OI type III and other patients with a qualitative collagen defect. One patient in this cohort was diagnosed with and treated for acute glaucoma. Dentinogenesis imperfecta was diagnosed in one fourth of the patients, based on clinical and radiographic findings. This condition was predominately seen in patients with moderate to severe OI. Hearing loss requiring treatment was found in 15 of 62 patients, of whom three were untreated. The most prevalent type of hearing loss (HL) was sensorineural hearing loss, whereas conductive HL was solely seen in patients with OI type III. The patients with the most severe degrees of HL were patients with mild forms of OI. Age was associated with increased HL. CONCLUSION: Although significant health problems outside the skeleton are frequent in adult patients with OI, the patients are not consistently monitored and treated for their symptoms. Clinicians treating adult patients with OI should be aware of non-skeletal health issues and consider including regular interdisciplinary check-ups in the management plan for adult OI patients.

Complete overdenture fabrication for a 12-year-old child with dentinogenesis imperfecta type 2.

Dentinogenesis imperfecta type 2 (DI-2), also known as hereditary opalescent dentin, is a rare, genetically linked condition that affects both primary and permanent teeth. Severe attrition requiring full-mouth rehabilitation is a common finding associated with DI-2. Dental rehabilitation options include a variety of invasive and noninvasive restorative techniques dictated by the age of the patient. Growth and development must be considered and may result in a restorative challenge for the dental practitioner, particularly when the patient in question is a child. This case report describes the fabrication of an overdenture to reestablish function, esthetics, and self-esteem in a 12-year-old patient. A 2-stage restorative treatment was followed by a satisfactory 6-month recall examination, indicating that the prostheses provided a successful outcome until more definitive restorative treatment can be accomplished in adulthood.

Alternativa en el tratamiento de la dentinogénesis imperfecta / Alternative treatment for dentinogenesis imperfecta

La dentinogénesis imperfecta es una afección hereditaria autosómica dominante que se origina en la etapa de histodiferenciación durante la odontogénesis. Constituye una forma de displasia mesodérmica localizada, caracterizada por una alteración de las proteínas dentinarias. El propósito de esta presentación es mostrar una alternativa en el tratamiento de esta afección en niños, utilizando coronas de acero inoxidables y resinas adhesivas compuestas. Se describe la forma en que se trató una niña de 8 años de edad que acudió a consulta por presentar dolor al ingerir alimentos fríos y dulces, cambios en la coloración y forma de los dientes, así como, alteraciones psicológicas en cuanto a su apariencia personal. Se corroboró la ausencia de antecedentes de esta afección en su familia. Se realizó examen clínico y radiográfico, donde se observaron las alteraciones en cuanto a forma y coloración de los dientes y pérdida de tejido dentario sobre todo en los primeros molares permanentes, con disminución de la dimensión vertical. Radiográficamente se constató la presencia de los folículos de sucesores permanentes, así como, estructuras óseas normales. Se diagnosticó dentinogénesis imperfecta. Se procedió a la colocación de coronas de acero inoxidable en los primeros molares permanentes y en los segundos molares temporales, para restaurar la dimensión vertical y solucionar las molestias a la ingestión de alimentos. Posteriormente se restauraron los dientes anteriores con resinas adhesivas compuestas. Es de vital importancia el diagnóstico y tratamiento temprano de esta afección para evitar grandes destrucciones de tejido, se muestra que en niños se debe realizar el tratamiento instalando coronas de acero inoxidables y restaurando los dientes con resinas adhesivas compuestas hasta esperar a la adultez donde se puedan realizar otros tipos de restauraciones definitivas(AU)

Dentinogenesis imperfecta is an inherited dominant autosomal condition originating during the histodifferentiation stage of odontogenesis. It is a form of localized mesodermal dysplasia characterized by an alteration in dentin proteins. The purpose of the study was to present an alternative treatment for dentinogenesis imperfecta in children, using stainless steel crowns and adhesive composite resins. A case is presented of an eight-year-old girl attending consultation for pain when eating cold or sweet food, changes in the color and shape of teeth, and psychological disorders related to her personal appearance. No history of the disease was found in the family. Clinical and radiographic examination revealed alterations in the shape and color of teeth as well as the loss of dental tissue, particularly in the first permanent molars, with a reduction in the vertical dimension. Radiographic examination confirmed the presence of permanent successor follicles as well as normal bone structures. Dentinogenesis imperfecta was diagnosed. Stainless steel crowns were placed over the first permanent molars and the second temporary molars with the purpose of restoring the vertical dimension and eliminating the discomfort when eating. Anterior teeth were then restored with adhesive composite resins. Early diagnosis and treatment of this condition is crucial to prevent large tissue destruction. As is shown in the study, treatment in children should consist in placing stainless steel crowns and restoring the teeth with adhesive composite resins until adult age, when other definitive restorations may be performed(AU)

Developmental defects of enamel and dentine: challenges for basic science research and clinical management.

Abnormalities of enamel and dentine are caused by a variety of interacting factors ranging from genetic defects to environmental insults. The genetic changes associated with some types of enamel and dentine defects have been mapped, and many environmental influences, including medical illnesses that can damage enamel and dentine have been identified. Developmental enamel defects may present as enamel hypoplasia or hypomineralization while dentine defects frequently demonstrate aberrant calcifications and abnormalities of the dentine-pulp complex. Clinically, developmental enamel defects often present with problems of discolouration and aesthetics, tooth sensitivity, and susceptibility to caries, wear and erosion. In contrast, dentine defects are a risk for endodontic complications resulting from dentine hypomineralization and pulpal abnormalities. The main goals of managing developmental abnormalities of enamel and dentine are early diagnosis and improvement of appearance and function by preserving the dentition and preventing complications. However, despite major advances in scientific knowledge regarding the causes of enamel and dentine defects, further research is required in order to translate the knowledge gained in the basic sciences research to accurate clinical diagnosis and successful treatment of the defects.

Osteogénesis imperfecta: alteraciones orales y médicas en niños / Osteogenesis imperfecta: oral and medical alterations in children

INTRODUCCIÓN: La osteogénesis imperfecta, también llamada enfermedad de los huesos de cristal, es un desorden caracterizado por una alteración en los tejidos conectivos de todo el cuerpo, incluida la dentición. El objetivo del estudio fue evaluar la presencia de fracturas y los huesos afectados por las mismas, la presencia de dentinogénesis imperfecta, el tratamiento de la osteogénesis imperfecta y el tipo de bifosfonato administrado. MÉTODOS: Se evaluaron las historias clínicas de 17 pacientes con osteogénesis imperfecta. RESULTADOS: El 81% de los pacientes sufrió fracturas, el 24% fueron de fémur, un 53% de los pacientes presentaron dentinogénesis imperfecta, el 71% de los pacientes son tratados con bifosfonatos y en un 83% con pamidronato. CONCLUSIONES: La mayoría de los pacientes ha sufrido fracturas a lo largo de su vida, la dentinogénesis imperfecta se da frecuentemente en estos pacientes y la mayoría de ellos están bajo tratamiento con bifosfonatos

INTRODUCTION: Osteogenesis imperfecta, also called the brittle bone disease, is a disorder characterised by an alteration in the connective tissues of the entire body, including teething. The objective of the study was to evaluate the presence of fractures and the bones affected by them, the presence of dentinogenesis imperfecta, the treatment of osteogenesis imperfecta and the type of biphosphonate administered. METHODS: The clinical histories of 17 patients with osteogenesis imperfecta were evaluated. RESULTS: Of the patients, 81% suffered fractures, 24% were of the femur, 53% of the patients presented dentinogenesis imperfecta, 71% of the patients are treated with biphosphonates and 83% with pamidronate. CONCLUSIONS: The majority of the patients have suffered fractures during their life, the dentinogenesis imperfecta occurs frequently in these patients and the majority of them are under treatment with biphosphonates

Capdepont's teeth - a hereditary dentin defect: case report & review / IDientes de capdepont - un defecto de dentina hereditario. reporte de caso y revisión de la literatura

Dentinogenesis imperfecta is an autosomal dominant genetic disorder with abnormal dentin structure affecting both primary and permanent dentitions leading to discolouration and attrition of teeth. Diagnosis is usually based on family history, a detailed clinical examination and pedigree construction. Treatment involves preservation of teeth, removal of infection, restoration of function and esthetics.

La dentinogénesis imperfecta es un trastorno genético autosómico dominante, caracterizado por una estructura anormal de la dentina, que afecta tanto la dentición temporal como permanente, generando decoloración y desgaste de los dientes. El diagnóstico generalmente se basa en la historia familiar, el examen clínico detallado y la construcción de pedigrí. Su tratamiento implica la conservación de los dientes, eliminación de infección, y la restauración de la función y la estética.

Soluções estéticas para alterações da odontogênese

As alterações na Odontogênese podem manifestar-se clinicamente de diversas formas e, pela varideade de alterações, muitas vezes são de difícil diagnóstico. O trabalho tem como objetivo realizar uma revisão de literatura sobre três alterações que geralmente causam bastante confusão entre os profissionais, que são a Amelogênese Imperfeita e a Dentinogênese Imperfeita que tem caráter hereditário e acometem todos os dentes, em ambas as dentições. Além desssa, também aborda as Hipoplasias de esmalte, qie podem ocorrer por fatores locais ou sistêmicos e afetar um ou mais dentes...