A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.

The present study aims to investigate the mutation in a Chinese family with dentin dysplasia type II (DD-II) and to summarize mutation hotspots, clinical manifestations, and disease management strategies. Phenotype analysis, clinical intervention, mutation screening, and cosegregation analysis within the enrolled family were performed. A summary of the reported mutations in the dentin phosphoprotein (DPP) region of dentin sialophosphoprotein (DSPP) was analyzed. Pathogenicity prediction analysis of the physical properties and function of DSPP variants was performed by bioinformatic processing. Clinical management strategies are discussed. A novel pathogenic mutation (c.2035delA) in the DPP region of DSPP was identified, which was cosegregated in the family. The immature permanent teeth of patients with DD-II presented with X-shaped root canal phenotypes. Most of the identified mutations for DD-II were clustered in the DPP region between nucleotides 1686-2134. Points of differential diagnosis, clinical interventions, and management strategies are proposed. This study revealed a novel DSPP frameshift mutation and presented new clinical features of DD-II. The locus involving nucleotides 1686-2134 of DSPP may represent a mutational hotspot for the disease. Appropriate management of DD-II at different stages is important to avoid the development of secondary dental lesions.

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.

Endodontic treatment of dentin dysplasia type I D.

Dentin dysplasia (DD) Type I is a developmental condition affecting dentin, inherited in an autosomal-dominant pattern or occurring due to a new mutation. Whilst the crowns of DD Type I affected teeth appear clinically normal, the roots are blunt and shortened. Pulp necrosis and periapical pathoses may be seen in the absence of obvious causes. Pulp stones and calcifications are frequently encountered. Endodontic management of DD may be challenging. A case of DD Type I, sub-classification d, in which spontaneous irreversible pulpitis developed on three mandibular incisors is documented. The case was managed by conventional endodontic treatment. Knowledge of this uncommon dental condition may assist dentists to adequately diagnose and manage these cases. Extraction should not be considered the first-line treatment option when sufficient root length is available to attempt endodontic treatment. Referral for medical evaluation is recommended to rule out systemic diseases which may mimic this condition.

[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.

Dentin dysplasia type 1 - clinical management dilemmas: A case report of first-generation sufferers.

Dentine Dysplasia is a rare genetic condition. The treatment options and dilemmas associated with the condition remain undiscovered so far. This article highlights the variations in traits and challenges faced in the treatment of the cases.

Heritable dentin defects: nosology, pathology, and treatment.

Heritable dentin defects have been divided into 2 main categories: dentinogenesis imperfecta (DI) and dentin dysplasia (DD). Recent studies have shown that they share many features in common. Of the connective tissue diseases, only osteogenesis imperfecta (OI) has been linked to these disorders. So far, no definitive relation between the type of OI and the dental involvement can be established. Familial occurrence of DI with OI cannot be comprehensively explained by mutations in type I collagen genes. No information about the gene defects in DD is available. At the ultrastructural level, the organization of the normally cross-striated collagen fibers in the dentin matrix varies markedly in patients affected by DI.

Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions.

Dentin dysplasia type I is a rare hereditary disturbance of dentin formation characterized clinically by nearly normal appearing crowns and severe hypermobility of teeth. Radiographic analysis shows obliteration of all pulp chambers, short, blunted, and malformed roots, and periapical radiolucencies of noncarious teeth. This paper presents 2 cases demonstrating both classic and atypical features of type I dentin dysplasia in the mixed and permanent dentitions. The clinical, radiographic, and histopathologic\findings of this condition and treatment are described.

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.

The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear. Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD-1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP), suggesting that these conditions are allelic. Diagnosis is based on family history, pedigree construction and detailed clinical examination, while genetic diagnosis may become useful in the future once sufficient disease-causing mutations have been discovered. Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome), permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a number of options including the use of crowns, over-dentures and dental implants depending on the age of the patient and the condition of the dentition. Where diagnosis occurs early in life and treatment follows the outlined recommendations, good aesthetics and function can be obtained.

[Clinical use of glassfiber-reinforced composites post and core].

PURPOSE: To evaluate the usefulness of glassfiber-reinforced composites post and core in restoration of serious dentine defects. METHODS: 59 cases, 87 teeth with serious dentine defects were selected. Glassfiber was used as the reinforcement frame and glassfiber-reinforced composites post and core were fabricated. Then the defected teeth were restored with porcelain-fused-metal crown. All patients were asked to re-visit 3 months, 6 months and 12 months after treatments. RESULTS: 2 cases (3 teeth) were out of visit 12 months after treatments. The restorations of other 57 cases (84 teeth) were firm and the occlusion was rebuilt satisfactorily during 12 months' clinical observations. Only one crown restoration was found to be loose. But the post and core was found to be still firm after the crown was taken off. Satisfactory results were achieved after being restored again. No dentine fracture was found in all restored teeth. The clinical results were satisfactory. CONCLUSION: Glassfiber-reinforced composite can be considered as a good material to fabricate post and core due to its high-strength, aesthetics and convenient operation.

Dentinal dysplasia, Type I. Report of a case with endodontic therapy.

The first reported case of endodontic therapy in dentinal dysplasia, Type I, is described. The first histologic diagnosis of periapical granuloma instead of periapical cyst in dentinal dysplasia, Type I, is also reported.

Dentinal dysplasia type I: report of a case.

A case of dentinal dysplasia type I is presented. This rare hereditary disturbance of dentine is characterized by short-rooted teeth with sharp conical apical constrictions, aberrant growth of dentine in the pulp chamber leading to reduced pulp space in permanent teeth and total pulpal obliteration in the primary dentition. Clinical, radiographic and histopathological material from a 7-year-old boy, showing the typical features of this disorder in which teeth are prematurely lost through periapical abscesses, cysts or spontaneous exfoliation, is described. A review of the theories of pathogenesis of this condition is included. Management of patients with dentinal dysplasia is difficult and a discussion of the shortcomings of various treatment strategies, including conventional endodontic therapy, periapical curettage and retrograde root filling, and a preventive regimen, are discussed. In this case, despite diagnosis being made at an early age and the provision of regular dental care, the patient is now losing teeth because of spontaneous abscess formation.