[Ectodermal Capdepont syndrome and oral prosthetic rehabilitation. About a clinical case]. / Syndrome ectodermique de Capdepont et réhabilitation orale prothétique. A propos d'un cas Clinique.

The authors describe the ectodermal Capdepont syndrome as an anomaly characterized by anhidrosis, hypotrichosis and anodontia diagnosed in a 22 year-old adult. In front of this anodontia, oral prosthetic rehabilitation remains the only solution.

Soundbites.

Dentinogenesis imperfecta (DGI) is characterized by discolored teeth with an opalescent sheen and dentin that fails to support enamel, causing it to easily chip. Two new studies show that DGI is associated with mutations in DSPP, a gene encoding dentin sialophosphoprotein that is processed into two proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). These are key components of the dentin extracellular matrix (DECM). Notably, missense mutations in DSPP are also associated with progressive hearing loss.

[Dentinogenesis imperfecta: a developmental anomaly of the dentin in the primary dentition. A literature review].

This literature review summarizes the current knowledge about Dentinigenesis Imperfecta, a developmental anomaly of thedentin.The phenomenon's classification is presented in details, as well as its etiology, clinical, rentgenological and histological characteristics. In addition, the treatment modes are described.

Clinical features of osteogenesis imperfecta in Taiwan.

BACKGROUND/PURPOSE: Osteogenesis imperfecta (OI) (MIM 166200, 166210, 259420 and 166220) is a congenital disorder characterized by increased bone fragility and low bone mass. Information regarding the clinical features of this genetic disorder is lacking in Taiwan. This study aimed to characterize the clinical features of OI patients in Taiwan to establish a practical correlation for distinguishing different clinical subtypes of the disorder. METHODS: A review of medical records identified 48 patients with OI (33 female and 15 male; age range, 2 months to 53 years) from January 1996 to June 2008. Diagnosis and classification, using the classification system outlined by Sillence et al, were based on clinical and radiological characteristics. We also analyzed the clinical presentation, physical examination and bone mineral density (BMD) among the different subtypes of OI. RESULTS: Retrospective analysis of the medical records revealed that 48 OI patients could be classified into types I (n = 19), III (n = 10), and IV (n = 19). There were statistically significant differences between these three types in terms of height, weight, BMD, dentinogenesis imperfecta, bone deformity, scoliosis, walking ability, annual fracture rate, and family history. However, no significant differences were noted for blue sclera (p = 0.075) and hearing loss (p = 0.832). CONCLUSION: Nine of the 11 clinical features examined---height, weight, BMD, dentinogenesis imperfecta, bone deformity, scoliosis, walking ability, fracture rate, and family history---were significantly different among the three types of OI patients. This finding may be of help in evaluating patients and establishing their prognosis.

Pediatric dental management of a patient with osteogenesis imperfecta and dentinogenesis imperfecta.

Osteogenesis imperfecta (OI) is a genetic disorder that affects all connective tissue. Clinical manifestations of OI include bone fragility, hyperlaxity of joints, hearing loss, abnormalities of stature and facial structure, blue sclerae, and dentinogenesis imperfecta (DI). OI is classified into four groups according to the severity and physical characteristics of the disease, although not all characteristics may be present in one individual. Currently, 20,000 to 50,000 individuals in the U.S. have been diagnosed with this disease. The aim of this article is to discuss medical and dental complications associated with OI and DI. A case presentation describes the clinical care of a patient from birth to age 12.

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.

Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations.

Transforming growth factor-beta1 negatively regulates crystallin expression in teeth.

Previously, we have reported that targeted overexpression of transforming growth factor (TGF) beta1 in the teeth of the transgenic mice (dTGF-beta1) results in a novel tooth phenotype phenomimicking the most prevalent tooth disorders in human. This phenotype was associated with discoloration and attrition of teeth due to defective mineralization. Here, we report a novel expression of crystallin family members in developing mouse teeth and its regulation by TGF-beta1 in these transgenic mice. AlphaB- and beta-crystallins were found to be elevated in dTGF-beta1 mouse teeth, whereas gamma-crystallin (gammaB, gammaC, and gammaF), a marker of cell differentiation, was significantly reduced. Because crystallins are believed to be stress-related proteins, their expression in teeth implicates them in a similar role because teeth are constantly subjected to physical friction and temperature fluctuations.

Orthognathic surgery in osteogenesis imperfecta: a case report with management considerations.

Osteogenesis imperfecta is a disease of connective tissues with additional metabolic defects. It is associated with recognisable facial disproportion and sometimes warrants surgical intervention for aesthetic, functional and psychological reasons. A severe case of osteogenesis imperfecta type 3 is presented to illustrate the feasibility of bimaxillary surgery using a mandibular body step osteotomy and maxillary down grafting at the Le Fort I level. The medical, anaesthetic, surgical and specific maxillofacial implications of surgery in these patients are discussed.

Scanning electron microscopy of teeth in osteogenesis imperfecta type I.

Opalescent teeth from five patients and nonopalescent teeth from six patients with osteogenesis imperfecta type I were examined with the scanning electron microscope and their appearances compared with those of teeth from normal persons. In opalescent teeth the main findings were a reduction in the number and variation in the size of the dentinal tubules that were irregularly embedded within the disturbed dentinal matrix and an abnormally smooth enamel-dentinal junction. Similar less marked dentinal abnormalities were found in the nonopalescent teeth from three patients. No abnormality was found in the enamel in any of the teeth examined. These findings suggest that in osteogenesis imperfecta teeth that appear normal may have defective dentine. This relevant to the current clinical classification of the disorder into subgroups according to the clinical presence or absence of affected teeth.

Evaluation of oral problems in an osteogenesis imperfecta population.

OBJECTIVE: The incidence of craniofacial and dental anomalies in children with the more severe nonlethal forms of osteogenesis imperfecta was evaluated. STUDY DESIGN: The study evaluated 40 children (age range, 1-17.5 years) with types III and IV osteogenesis imperfecta. In each case, the dentition was evaluated for the presence of dentinogenesis imperfecta, attrition, and caries, as well as for radiographic appearance, dental development, and malocclusion. RESULTS: The incidence of dentinogenesis imperfecta was greater than 80% in the primary dentition. Clinically, the color of the dentition was of predictive value in appropriate management of the primary dentition. Tooth discoloration and attrition did not occur to the same extent in the permanent dentition as in the primary dentition in either group. Class III dental malocclusion occurred in 70% to 80% of this osteogenesis imperfecta population, with a high incidence of anterior and posterior cross bites and open bites. A delay in dental development was observed in 21% of patients type III osteogenesis imperfecta, whereas accelerated development was noted in 23% of the patients with type IV. In addition, ectopic eruption occurred in 13 patients. CONCLUSIONS: In addition to dentinogenesis imperfecta, significant oral problems occur in types III and IV osteogenesis imperfecta. Other features that impact the dental management of this population are highlighted.

Dental management of severe dentinogenesis imperfecta in a mild form of osteogenesis imperfecta.

Dentinogenesis Imperfecta (DI), in which the teeth are discolored, translucent and brittle, can occur in isolation as a familial trait and as a component of the skeletal dysplasia Osteogenesis Imperfecta (OI). In a Cape Town family, 20 persons in 3 generations had mild OI, with the additional manifestation of severe DI. The family was assessed at the Dental Genetic Unit of the University of the Western Cape and appropriate dental treatment was provided. In this setting, a detailed treatment plan was devised for a severely affected woman. This plan proved to be efficient and cost effective, and the final outcome was pleasing to the patient. Dentinogenesis Imperfecta is not uncommon and may well be encountered in conventional dental practice. The necessary clinical expertise is within the scope of the skills of the general dentist.

[Dental complications of radiotherapy of tumors of the nasal cavity in childhood]. / Gyermekkori orrüregi tumor radiológiai kezelésének fogászati szövödménye.

Authors have presented a case-report of a child with no or hardly developed roots of permanent teeth in the maxilla. Histological examinations of the removed teeth showed amelogenesis imperfecta and dentinogenesis imperfecta. The disturbance in root development is considered to be the consequence of the radiological treatment which was given to the child at the age of four because of the endodermal sinus tumor of the left middle nasal passage.

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.

Manejo estomatológico del paciente con osteogénesis imperfecta: presentación de un caso / Dentistry handling patient with osteogenesis imperfecta. Report of a case

La osteogénesis imperfecta es un desorden hereditario que comprende unamplio espectro de presentaciones fenotípicas cuya principal característicaes la fragilidad ósea. La dentinogénesis imperfecta es un trastorno de origen hereditario en el desarrollo de la dentina, cuya incidencia se estimaen alrededor de 1:8,000. Objetivo: Implementar un abordaje estomatoló-gico con enfoque en nuevas tendencias rehabilitadoras y preventivas entratamientos para pacientes con dentinogénesis imperfecta. Presentación del caso: Paciente masculino de tres años de edad que acude al Servicio de Estomatología del Instituto Nacional de Pediatría, diagnosticado con osteogénesis imperfecta tipo IV. Se observan las coronas con coloración ámbar generalizada, atrición y pérdida de la estructura dentaria por caries en diversos órganos dentarios. Se realiza la rehabilitación bucal bajo anestesia general, restaurando los dientes afectados con coronas de acero cromoy colocando selladores de fosetas y fi suras en molares con esmalte íntegro así como fluoruro en barniz al 5 por ciento. Conclusiones: El tratamientode la dentinogénesis imperfecta depende de la severidad que presente elpaciente. Es esencial dar un seguimiento estrecho, resolviendo de manera oportuna las necesidades que vayan surgiendo con un tratamiento no tan radical como se recomendaba anteriormente.

Osteogenesis imperfecta is a hereditary disorder that encompasses abroad spectrum of phenotypic presentations whose main characteristicis bone fragility. Dentinogenesis imperfecta is a disorder in developinghereditary dentin whose incidence is estimated to about 1:8,000.Objective: Implement a focused approach dentistry new trends inrehabilitative and preventive treatments for patients with dentinogenesisimperfecta. Case report: Male patient age three who comes toDentistry Service of the National Institute of Pediatrics, diagnosed withosteogenesis imperfecta type IV. Crowns with generalized amber colorobserved oral rehabilitation is performed under general anesthesia,restoring the aff ected teeth with stainless steel crown and placingsealant in the molar pit and fi ssure enamel integral and placementof fl uoride varnish to 5%. Conclusions: Dentinogenesis imperfectatreatment depends on the severity with which the patient presents. Itis very important to closely monitor, timely meeting the needs as theyarise, conducting a treatment not as radical as it was in the beginning.