Type I Dentin Dysplasia: The Literature Review and Case Report of a Family Affected by Misrecognition and Late Diagnosis.

Background and Objectives: Type I dentin dysplasia (DD-I) is a rare genetic disorder with autosomal dominant or recessive inheritance at risk of late or long-misunderstood diagnosis because the teeth, compared to other degenerative dentin diseases, do not have coronal defects and/or alterations but only at the root level (absent, conical, pointed roots, and obliterated pulp canals). The first radiographic suspicion often occurs only in case of sudden mobility and/or abscesses of the permanent teeth. Genetic tests confirm the diagnosis. Case Presentation: This case report describes the oral and radiographic characteristics of two siblings, 12 and 10 years old, a male and a female, at an early age affected by DD-I, whose diagnosis was made for a first orthodontic visit. The father and the older child had already undergone dental and orthodontic treatments, respectively, without the disease being suspected by the dentist. Results: Genetic tests support the diagnosis of DD-I. Following the diagnosis, the patients began a process of close periodic checks every 3-4 months to monitor their situation. The male child lost upper lateral incisors, which were then replaced with a light nylon removable prosthesis. Conclusions: The ability to recognize the radiographic features characteristic of DD-I is very important to avoid prejudicial diagnostic delays and to be able to plan the long-term treatment of these patients better, especially when the pathology was primarily misrecognized in the family.

[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.

Generalized Dentin Dysplasia in a Four-Year-old dog.

Dentin dysplasia is an autosomal-dominant genetic abnormality that occurs in humans and results in diffuse radiographic dental abnormalities and variable tooth discoloration due to an underlying defect in secondary dentinogenesis. This case report presents distinctive radiographic and histopathologic dental abnormalities in a dog that are consistent with generalized dentin dysplasia. These findings are similar to but not completely analogous to any specific clinical type of dentin dysplasia in humans. Grossly, the majority of the teeth in this case were discolored and most were determined to be vital. Dentin dysplasia should be included in the list of differential diagnoses of discolored teeth and notably this form of discoloration does not necessarily indicate loss of vitality.

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.

Dentin dysplasia: diagnostic challenges.

Dentin dysplasia(DD) is a rare autosomal dominant disorder associated with disturbance of the dentin. While the crowns appear clinically normal, on radiography, the pulp spaces appear partially or completely obliterated, with short blunted roots, and multiple periapical radiolucencies affecting the apparently sound teeth. Clinical signs include spontaneous abscess formation or increased tooth mobility which can lead to exfoliation. DD can therefore have a significant impact on the patient's dentition, and treatment is often challenging. Shields' classification of dentin disorders has been recently criticised for failing to consider differential variations and expressions of these disorders. This paper describes a case of a 23-year-old woman with previously undiagnosed DD, who presented with clinical and histological features belonging to several of these diseases, thus highlighting the potential diagnostic challenges faced with Shields' classification.

A rare case diagnosed as dentin dysplasia type II.

According to their phenotypic features, the hereditary dentin defects in humans are categorized in two major classes: dentinogenesis imperfecta and dentin dysplasia. At its turn, the dentin dysplasia is subdivided in dentin dysplasia type I and dentin dysplasia type II, a milder clinical manifestation of the condition. Here we report the clinical and radiographic findings of dentin dysplasia type II in two members of a family, a young adult female and her mother. Except a mild shade change of the incisal margins in upper central incisors and left upper canine of the daughter no abnormal occlusal wear or crown shape change of the teeth were disclosed in both patients. However, confluent large pulp stones in the thistle-tube shaped pulp chambers and pulpal obliteration were a common finding. The condition was diagnosed as dentin dysplasia type II.

Type-1 Dentine Dysplasia ­ Diagnostic and Clinical Challenges in Restorative Management.

Type-1 dentine dysplasia is a rare hereditary condition, associated with an abnormality in dentine formation. Deceptively, teeth have the clinical appearance of normality, however, radiographically, a different picture is seen; with multiple periapical radiolucencies associated with non-carious, unrestored teeth. This article reports the diagnostic and management challenges associated with dentine dysplasia in adults. Clinical relevance: Early diagnosis and preventive advice within primary care are imperative in the long-term outcomes.

Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I.

Dentin dysplasia type I (DDI) is an autosomal-dominant genetic disorder resulting from dentin defects. The molecular basis of DDI remains unclear. DDI exhibits unique characteristics with phenotypes featuring obliteration of pulp chambers and diminutive root, thus providing a useful model for understanding the genetics of tooth formation. Using a large Chinese family with 14 DDI patients, we mapped the gene locus responsible for DDI to 3p26.1-3p24.3 and further identified a missense mutation, c.353C>A (p.P118Q) in the SSUH2 gene on 3p26.1, which co-segregated with DDI. We showed that SSUH2 (p.P118Q) perturbed the structure and significantly reduced levels of mutant (MT) protein and mRNA compared with wild-type SSUH2. Furthermore, MT P141Q knock-in mice (+/- and -/-) had a unique partial obliteration of the pulp cavity and upregulation or downregulation of six major genes involved in odontogenesis: Dspp, Dmp1, Runx2, Pax9, Bmp2, and Dlx2. The phenotype of missing teeth was determined in zebrafish with morpholino gene knockdowns and rescued by injection of normal human mRNA. Taken together, our observations demonstrate that SSUH2 disrupts dental formation and that this novel gene, together with other odontogenesis genes, is involved in tooth development.

[Difficulties in differential diagnosis of dentin dysplasia. Case report]. / A dentin dysplasia differenciáldiagnosztikai nehézségei. Esetismertetés.

In cases of periapical lesions of unknown origin we have to keep in mind the possibility of dentin dysplasia. From the differential diagnostic point of view of differential diagnosis it is important to recognize this disease as it significantly influences the treatment modality. It is an anomaly of unknown etiology that could affect both deciduous and permanent dentition. Dentin dysplasia presentation varies clinically and radiologically. A rare manifestation which affects 1: 100000 patients is spontaneously occurring either as periapical abscess or odontogenic cyst. The affected teeth could become mobile and eventually lost. Dentin dysplasia is a genetic disease which shows autosomal dominant inheritance and characterized by abnormal formation of dentin structure which occurs during tooth development. For this article we have reviewed available literature and PubMed database. Dentin dysplasia increases the risk of early tooth loss and associated with it esthetic and functional disturbances. As a result it can influence the psychological and social status of the patients and affect their quality of life.

Dentin dysplasia type 1d: a rare case.

Dentin dysplasia is a rare hereditary disturbance of dentin formation characterized by a defective dentin development with clinically normal-appearing crowns, severe hypermobility of teeth and spontaneous dental abscesses or cysts. Radiographic analysis shows obliteration of all pulp chambers by pulp stones, short, blunted and malformed or absent roots, peri-apical radiolucencies of noncarious teeth. We present a case of dentin dysplasia type 1d in a 19-year-old boy along with the clinical, radiographic findings of this condition and treatment. There are still many inconclusive issues in the diagnosis and management of patients with dentin dysplasia. The diagnostic features of this rare disturbance will remain incompletely defined until additional cases have been described.

Dentin dysplasia type I.

Dentin dysplasia type I is a rare hereditary disturbance of dentin formation characterised clinically by nearly normal appearing crowns and hypermobility of teeth that affects one in every 100,000 individuals and manifests in both primary and permanent dentitions. Radiographic analysis shows obliteration of all pulp chambers, short, blunted, and malformed roots, and periapical radiolucencies of non-carious teeth. This paper presents three cases demonstrating classic features of type I dentin dysplasia.

Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family.

Dentin dysplasia is a rare autosomal dominant genetic disease characterized by defect of dentin development and the causal gene is DSPP (Dentin Sialophosphoprotein gene). We report in the present study a large Moroccan family in which dentin dysplasia is clearly transmitted as an autosomal recessive trait. Four males and females family members born from healthy consanguineous parents are carriers of the typical features of the dentin dysplasia type I. Polymorphic markers that span the DSPP gene, allowed us to show that this locus is not linked to dentin dysplasia in our family. We also excluded in our family the SMOC2 gene (Sparc Related Modular Calcium Binding Protein 2) which was recently identified as a causal gene in dentin dysplasia type I with microdontia and misshapen teeth. This family represents, a new description of autosomal recessive pattern of inheritance of dentin dysplasia type I. Moreover, this form of dentin dysplasia is not allelic to the autosomal dominant dentin dysplasia and the genetic cause is to be discovered.

Regional odontodysplasia: a case report / Odontodisplasia regional: relato de caso clínico

PURPOSE: Regional odontodysplasia (RO) is a rare condition characterized by distinctive clinical, radiographic and microscopic findings. It is presumed to be the result of a developmental disturbance that locally affects the odontogenic ectodermal and mesodermal tissues. This report describes the clinical and radiographic findings of RO and its treatment. CASE DESCRIPTION: A 15-year-old boy presented with an uncommon case of RO involving two quadrants of the jaws on the right side of his face. CONCLUSION: A complex multidisciplinary team is required to fully rehabilitate a patient affected by RO. The treatment of RO is controversial and varies according to the individual patient.

OBJETIVO: Odontodisplasia regional (OR) é uma condição rara caracterizada por achados clínicos, radiográficos e microscópicos bem distintos. É o resultado de um distúrbio de desenvolvimento bem localizado afetando tanto o ectoderma quanto o mesoderma odontogênico. Este trabalho descreveu os achados clínicos e radiográficos de um caso de OR e os tratamentos. DESCRIÇÃO DO CASO: Um menino de 15 anos de idade apresentou um caso incomum de OR envolvendo dois quadrantes dos maxilares no lado direito da face. CONCLUSÃO: Há necessidade de uma equipe multidisciplinar complexa para reabilitar inteiramente um paciente com OR. O tratamento de OR é controverso e varia de acordo com as características e resposta do paciente.

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. Homozygosity mapping revealed a unique zone on 6q27-ter. The two affected children were found to carry a homozygous mutation in SMOC2. Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. Moreover, smoc2 depletion in zebrafish affected the expression of three major odontogenesis genes: dlx2, bmp2, and pitx2.

Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location.

We describe results from a mutational analysis of the region of the dentin sialophosphoprotein (DSPP) gene encoding dentin phosphoprotein (DPP) in 12 families with dominantly inherited dentin diseases. In eight families (five mutations in the N-terminal third of DPP), the clinical and radiologic features were uniform and compatible with dentin dysplasia type II (DD-II) with major clinical signs in the deciduous dentition. In the other families (four mutations in the more C-terminal part), the permanent teeth also were affected, and the diseases could be classified as variants of dentinogenesis imperfecta. Attrition was not prominent, but periapical infections were common. Discoloring with varying intensity was evident, and pulps and root canals were obliterated in the permanent dentition. All mutations caused a frameshift that replaced the Ser-Ser-Asx repeat by a code for a hydrophobic downstream sequence of approximately original length. We conclude that frameshift mutations in DSPP explain a significant part of dentin diseases. Furthermore, we propose that the location of the mutation is reflected in the phenotypic features as a gradient from DD-II to more severe disease that does not conform to the classic definitions of DI-II.

Correlación clínico - patológica de lesiones diagnosticadas inicialmente como leucoplasia bucal y el diagnóstico histopatológico de displasia epitelial en una muestra de 11250 pacientes adultos Facultad de Odontología Universidad Central Venezuela / Correlation clinical - pathological lesions initially diagnosed as oral leukoplakia and histopathological diagnosis of epithelial dysplasia in a sample of 11250 adult patients Facultad de Odontología Universidad Central de Venezuela

La Leucoplasia Bucal (LB) es reconocida como una lesión que presenta características histopatológicas de Displasia Epitelial (DE). La proporción de DE que progresa a carcinoma Espino Celular es variada y se encuentra en un rango de 6,6 a 36 por ciento. El objetivo de este estudio fue establecer la correlación entre LB de la mucosa bucal con diagnóstico histopatológico de DE, para tal fin se revisaron un total de 11.250 historias, pudiéndose determinar que 180 de éstas correspondían a la patología a estudiar. Estos datos fueron analizados de acuerdo a su localización anatómica, sexo, edad, grupo étnico y grado de DE, 180 casos representaron LB con diferentes grados de Displasias, de las cuales 97(52,8 por ciento) eran DE leves, 67(37,2 por ciento) DE moderadas y 18(10,0 por ciento) DE severas. La localización anatómica más frecuentemente afectada fue la mucosa del reborde alveolar con 42 casos (24,1 por ciento), seguido por la mucosa del carrillo 35 casos (19,2 por ciento). La mayor prevalencia de edad fue del grupo de 50-59años (30,2 por ciento). El sexo femenino obtuvo el mayor número de casos. 102 casos (56,4 por ciento). En cuanto al grupo étnico el caucasoideo fue el más afectado con 98 casos (53,8 por ciento). Se reportó un 43 por ciento de pacientes con hábitos tabáquicos. Al correlacionar clínico-patológicamente los casos de este estudio se pudo evidenciar que el diagnóstico clínico de Leucoplasia esta más frecuentemente relacionada con el diagnóstico histopatológico de Displasia leve

Oral Leucoplakia (OL) is a term used to describe predominantly white lesions of the oral mucous which cannot be characterized as other specific lesions and which have a potential for malignant transformation. OL is recognized as a lesion with the histopathological characteristics of epithelial dysplasia. The proportion of epithelial dysplasia (ED) which progress to spin cellular carcinomas varies within a range of 6.6 percent to 36 percent. The purpose of this study was to determine the relationship between ED of the oral mucous clinically diagnosed as Leucoplakia. To that end a total of 11,250 micro histories were reviewed, representing all the samples analized from October 1968 to December 1998. It was found that 180 of these cases reflected the pathology of interest. These data were analyzed according to their anatomical location, sex, age, ethnic group, and degree of epithelial dysplasia. 180 cases represented oral Leucoplakias with differing degrees of dysplasia, of which 97 (52.8 percent) were mild ED, 67 (37. 2 percent) were moderate ED and 18 (10 percent) were severed ED. The most frequent anatomical location reported in this study was the mucous of the alveolar ridge, with 42 cases (24. 1 percent). Next came and the cheek mucous, with 35 cases (19.2 percent). The leading age group was 50 - 59 years (30.2 percent) Females had a higher predisposition with 102 cases (56.4 percent). The Caucasian ethnic group was the most frequently affected, with 98 cases (53.8 percent). 43 percent of the patients were reported to be smokers. A clinical - pathological correlation of the cases reviewed in this study shows that Leucoplakia is most often related to histopathological diagnosis of mild dysplasia