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.

Symmetric multiquadrant isolated dentin dysplasia (SMIDD), a unique presentation mimicking dentin dysplasia type 1b.

Dentin dysplasia (DD) is a rare developmental dentin disorder that causes root malformation. It is divided into radicular DD type 1 (DD-1) and coronal DD type 2 (DD-2). Recently, a new entity causing localized root malformation of permanent first molars that resembles DD-1b has been described as molar-incisor malformation (MIM). We report and compare 4 new cases that exhibit similar clinical, histologic, and radiographic features to the new entity, MIM. We believe MIM and our 4 cases to be the same entity, which is nonhereditary and, because of the isolated but bilaterally symmetric pattern of involvement, may be caused by a short-duration environmental insult that disrupts normal development/function of Hertwig's epithelial root sheath. We propose the name symmetrical multiquadrant isolated dentin dysplasia as the most appropriate descriptive designation for this unusual but highly distinctive anomaly.

Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.

Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered dentin structure. Dentin extra cellular matrix is composed of 90% of collagen type I and 10% of non-collagenous proteins among which dentin sialoprotein (DSP), dentin glycoprotein (DGP) and dentin phosphoprotein (DPP) are crucial in dentinogenesis. These proteins are encoded by a single gene: dentin sialophosphoprotein (DSPP) and undergo several post-translational modifications such as glycosylation and phosphorylation to contribute and to control mineralization. Human mutations of this DSPP gene are responsible for three isolated dentinal diseases classified by Shield in 1973: type II and III dentinogenesis imperfecta and type II dentin dysplasia. Shield classification was based on clinical phenotypes observed in patient. Genetics results show now that these three diseases are a severity variation of the same pathology. So this review aims to revise and to propose a new classification of the isolated forms of DI to simplify diagnosis for practitioners.

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.

Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition.

Dentin dysplasia is a rare defect of dentin development with an autosomal dominant pattern of inheritance, which is generally divided into 2 main classes based on the clinical and radiographic appearance of the affected dental tissues: type I, which affects the root portion and type II, which affects the coronal portion of the tooth. This paper reports the case of a child aged 10 years and 8 months with both classic and atypical features of dentin dysplasia type I in the permanent dentition. Only few mandibular teeth were affected and presented clinically normal appearing crowns, moderate to severe mobility, short, blunt or almost absent roots. However, no evidence of pulp chamber obliteration or periapical radiolucencies was found. The clinical and radiographic characteristics observed in this patient are different from those reported in the literature, which suggests that this may be a variation of dentin dysplasia type I expression.

Variation of dentin dysplasia type I: report of atypical findings in the permanent dentition

Dentin dysplasia is a rare defect of dentin development with an autosomal dominant pattern of inheritance, which is generally divided into 2 main classes based on the clinical and radiographic appearance of the affected dental tissues: type I, which affects the root portion and type II, which affects the coronal portion of the tooth. This paper reports the case of a child aged 10 years and 8 months with both classic and atypical features of dentin dysplasia type I in the permanent dentition. Only few mandibular teeth were affected and presented clinically normal appearing crowns, moderate to severe mobility, short, blunt or almost absent roots. However, no evidence of pulp chamber obliteration or periapical radiolucencies was found. The clinical and radiographic characteristics observed in this patient are different from those reported in the literature, which suggests that this may be a variation of dentin dysplasia type I expression.

A displasia dentinária é uma alteração do desenvolvimento da dentina rara, de origem autossômica dominante, o qual é geralmente dividida em 2 tipos principais baseados na aparência clínica e radiográfica dos tecidos dentais afetados: tipo I, que afeta a porção radicular e o tipo II, que afeta a porção coronária do dente. O objetivo deste trabalho é relatar o caso de um paciente de 10 anos e 8 meses de idade com ambas alterações clássicas e atípicas da displasia dentinária do tipo I na dentição permanente. Alguns dentes da arcada inferior foram acometidos, apresentando-se com coroas clinicamente normais, mobilidade dental de moderada a severa e raízes curtas ou ausentes, porém sem evidência de obliteração das câmaras pulpares e de lesões periapicais. As características clínicas e radiográficas observadas neste paciente foram diferentes daquelas relatadas na literatura, o que sugere que esta possa ser uma variação da expressão da displasia dentinária do tipo I.

Dentin dysplasia: single-tooth involvement?

Dentin dysplasia is a genetic defect of dentin formation inherited as an autosomal dominant trait. It is characterized by normal enamel but atypical dentin formation with abnormal pulpal morphology. Once thought to be a single entity, dentin dysplasia has now been divided into type I (radicular) and II (coronal). Type I is by far the more common. Both types include multiple/generalized involvement of primary and permanent dentition. Combinations of both types have also been described in the literature. Four distinct forms of dentin dysplasia type I and 1 form of dentin dysplasia type II are identified. Although there seems to be no need to identify more than 2 distinct types of this relatively rare inherited defect of human dentin, the possible existence of additional forms of the disease cannot be ruled out. Here is a case report of dentin dysplasia in a single tooth, with crown and roots of normal dimensions, associated with severe pain and mobility and histologically involving both coronal and radicular dentin. Focal odontoblastic dysplasia or dentin dysplasia type III could be the new entity.

A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia.

The dentin sialophosphoprotein (DSPP) gene on chromosome 4q21.3 encodes the major noncollagenous protein in tooth dentin. DSPP mutations are the principal cause of dentin dysplasia type II, dentinogenesis imperfecta type II, and dentinogenesis imperfecta type III. We have identified a DSPP splice junction mutation (IVS2-6T>G) in a family with dentin dysplasia type II. The primary dentition is discolored brown with severe attrition. The mildly discolored permanent dentition has thistle-shaped pulp chambers, pulp stones, and eventual pulp obliteration. The mutation is in the sixth nucleotide from the end of intron 2, perfectly segregates with the disease phenotype, and is absent in 200 normal control chromosomes. An in vitro splicing assay shows that pre-mRNA splicing of the mutant allele generates wild-type mRNA and mRNA lacking exon 3 in approximately equal amounts. Skipping exon 3 might interfere with signal peptide cleavage, causing endoplasmic reticulum stress, and also reduce DSPP secretion, leading to haploinsufficiency.

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.

Periodontal status of patients with dentin dysplasia type I: report of three cases within a family.

BACKGROUND: Dentin dysplasia type I (DDI) is a rare hereditary disturbance of dentin formation. It is characterized by clinically normal-appearing crowns; obliteration of pulp chambers; and short, blunted and malformed roots that are commonly associated with periodontal attachment loss (PAL). In this context, we report three cases within a family with similar clinical and radiographic features of DDI but with differing microbiologic and periodontal conditions. METHODS: A 42-year-old white female and her two daughters (25 and 10 years of age) presented with a diagnosis of DDI. Probing depth (PD), clinical attachment level (CAL), visible plaque, and bleeding on probing (BOP) were recorded. Subgingival biofilm samples were randomly collected and analyzed by checkerboard DNA-DNA hybridization. RESULTS: The mother presented 34.9% of sites with PD > or =4 mm, 41.3% of sites with CAL > or =4 mm, and 57% of sites with BOP; both daughters presented no sites with PD or CAL >3 mm and <10% of sites with BOP. Microbiologic analysis detected Gemella morbillorum, Neisseria mucosa, and Staphylococcus aureus in > or =50% of the mother's samples. The daughters showed high levels (>10(4) bacterial cells) of some periodontopathic bacteria, including members of the red (Porphyromonas gingivalis) and orange (Fusobacterium periodonticum and F. nucleatum polymorphum) complexes and beneficial species of the yellow (Streptococcus gordonii) and purple (Veillonella parvula) complexes. The mother presented high mean levels only for four tested species (N. mucosa, Prevotella melaninogenica, Treponema denticola, and V. parvula). CONCLUSION: A combination of radiographs, microbiologic analysis, and preventive professional monitoring care is important to avoid PAL and to provide oral health in patients with DDI.

Disorders of human dentin.

Dentin, the most abundant tissue in teeth, is produced by odontoblasts, which differentiate from mesenchymal cells of the dental papilla. Dentinogenesis is a highly controlled process that results in the conversion of unmineralized predentin to mineralized dentin. By weight, 70% of the dentin matrix is mineralized, while the organic phase accounts for 20% and water constitutes the remaining 10%. Type I collagen is the primary component (>85%) of the organic portion of dentin. The non-collagenous part of the organic matrix is composed of various proteins, with dentin phosphoprotein predominating, accounting for about 50% of the non-collagenous part. Dentin defects are broadly classified into two major types: dentinogenesis imperfectas (DIs, types I-III) and dentin dysplasias (DDs, types I and II). To date, mutations in DSPP have been found to underlie the dentin disorders DI types II and III and DD type II. With the elucidation of the underlying genetic mechanisms has come the realization that the clinical characteristics associated with DSPP mutations appear to represent a continuum of phenotypes. Thus, these disorders should likely be called DSPP-associated dentin defects, with DD type II representing the mild end of the phenotypic spectrum and DI type III representing the severe end.

Hereditary dentin defects.

By the Shields classification, articulated over 30 years ago, inherited dentin defects are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is osteogenesis imperfecta (OI) with DGI. OI with DGI is caused, in most cases, by mutations in the 2 genes encoding type I collagen. Many genes are required to generate the enzymes that catalyze collagen's diverse post-translational modifications and its assembly into fibers, fibrils, bundles, and networks. Rare inherited diseases of bone are caused by defects in these genes, and some are occasionally found to include DGI as a feature. Appreciation of the complicated genetic etiology of DGI associated with bony defects splintered the DGI type I description into a multitude of more precisely defined entities, all with their own designations. In contrast, DD-II, DGI-II, and DGI-III, each with its own pattern of inherited defects limited to the dentition, have been found to be caused by various defects in DSPP (dentin sialophosphoprotein), a gene encoding the major non-collagenous proteins of dentin. Only DD-I, an exceedingly rare condition featuring short, blunt roots with obliterated pulp chambers, remains untouched by the revolution in genetics, and its etiology is still a mystery. A major surprise in the characterization of genes underlying inherited dentin defects is the apparent lack of roles played by the genes encoding the less-abundant non-collagenous proteins in dentin, such as dentin matrix protein 1 (DMP1), integrin-binding sialoprotein (IBSP), matrix extracellular phosphoglycoprotein (MEPE), and secreted phosphoprotein-1, or osteopontin (SPP1, OPN). This review discusses the development of the dentin extracellular matrix in the context of its evolution, and discusses the phenotypes and clinical classifications of isolated hereditary defects of tooth dentin in the context of recent genetic data respecting their genetic etiologies.

Endodontic therapy on a dentition exhibiting multiple periapical radiolucencies associated with dentinal dysplasia Type 1.

Dentinal dysplasia (DD) Type I, is a hereditary disturbance in dentine formation. In this anomaly, teeth in both primary and secondary dentitions are affected, and radiographically show short and blunted roots with obliterated root canals and periapical pathosis. Management of patients with DD has presented dentists with problems. Extraction has been suggested as a treatment alternative for teeth with pulp necrosis and periapical abscess. Follow-up and routine conservative treatment is another choice of treatment plan in DD. Another approach for the treatment of teeth with DD has included periapical surgery and retrograde filling, which is recommended in the teeth with long roots. The purpose of this report is to present an unusual case of dentinal dysplasia Type I in a 22-year-old woman showing upper and lower teeth with obliterated root canals and periapical radiolucencies. In this case, conventional endodontic treatment was performed. Postoperative radiographs and clinical evaluation demonstrated periapical healing and successful results. Based on the results of this case report, conventional endodontic treatment for cases with pulp necrosis and periapical radiolucencies in dentinal dysplasia is highly recommended.

Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.

Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders that primarily affect the formation of tooth dentin. Both conditions are autosomal-dominant and can be caused by mutations in the dentin sialophosphoprotein gene (DSPP, 4q21.3). We recruited 23 members of a four-generation kindred, including ten persons with dentin defects, and tested the hypothesis that these defects are linked to DSPP. The primary dentition showed amber discoloration, pulp obliteration, and severe attrition. The secondary dentition showed either pulp obliteration with bulbous crowns and gray discoloration or thistle-tube pulp configurations, normal crowns, and mild gray discoloration. Haplotype analyses showed no recombination between three 4q21-q24 markers and the disease locus. Mutational analyses identified no coding or intron junction sequence variations associated with affection status in DMP1, MEPE, or the DSP portion of DSPP. The defects in the permanent dentition were typically mild and consistent with a diagnosis of DD-II, but some dental features associated with DGI-II were also present. We conclude that DD-II and DGI-II are milder and more severe forms, respectively, of the same disease.

Assessment of dysplastic dentin in osteogenesis imperfecta and dentinogenesis imperfecta.

Two semiquantitative scoring systems, Clinical Radiographic Score (CRS) and Dysplastic Dentin Score (DDS), were introduced for analyzing degree of dysplastic manifestations in dentin. The utility of both systems was demonstrated in a large material of teeth from patients with dentinogenesis imperfecta (DI) and osteogenesis imperfecta (OI). Twenty teeth from healthy controls, 81 teeth from 40 patients with OI, and 18 teeth with DI without OI (DI type II) were examined. The degree of dysplasia was correlated with type and form of OI and type of DI. The median DDS did not differ between DI associated with OI (DI type I) and DI type II. DDS in OI patients without clinical signs of DI was above that of control teeth. Both circumpulpal and mantle dentin showed increased DDS, although circumpulpal dentin was more severely affected. The median DDS was highest for the most severe type of non-lethal OI (type III). DDS increased significantly with form (severity) of OI. A significant association between DDS and CRS was found, although diagnosis of DI in less severe cases was not possible based on radiographic or clinical signs alone. Thus, the DDS system proved valuable when the CRS system based on radiographic/clinical manifestations failed, the most significant finding being subclinical histological manifestations of DI in patients with OI but without clinical or radiographic signs of DI. These subtle dysplastic changes are most likely an expression of genetic disturbances associated with OI and should not be diagnosed as DI, but rather be termed histologic manifestations of dysplastic dentin associated with OI.

[Revision of the 1992 edition of the WHO histological typing of odontogenic tumors. A suggestion]. / Revision der WHO-Klassifikation odontogener Tumoren von 1992. Ein Vorschlag.

The WHO classification of odontogenic tumors (1992, OT) was revised. The following main changes were proposed: (1) OT are not only "related to" odontogenic tissues but are derived from these; (2) the stroma of the epithelial tumor group (1.1.1) is of a fibrous nature and does not contain any ectomesenchymal component; (3) subtypes of ameloblastomas have to be differentiated (intra-, extraosseous, desmoplastic, unicystic); (4) eponyms are no longer used in the revised classification; (5) the AOT is reclassified as an epithelial OT; (6) a neoplastic and non-neoplastic line of the ameloblastic fibroma and ameloblastic fibrodentinoma is proposed; (7) the calcifying ghost cell odontogenic tumor is included in the classification; (8) the simple and the WHO type of odontogenic fibroma are included in the classification; (9) the classification of malignant OT is adapted from Eversole (1999) with a few changes. In particular, ameloblastic carcinoma is differentiated from malignant ( metastasizing) ameloblastoma; (10) the term carcinoma in intraosseous (peripheral) ameloblastoma is introduced. Also, the malignant epithelial odontogenic ghost cell tumor is termed calcifying ghost cell odontogenic carcinoma; (11) the clear cell odontogenic tumor is termed clear cell odontogenic carcinoma; (12) the so-called pseudocysts are termed "cavities" (aneurysmal bone cavity, simple bone cavity, lingual and buccal mandibular bone cavity, focal marrow-containing jaw cavity).

Hereditary pattern for dentinal dysplasia type Id: a case report.

Generalized pulpal calcifications arouse suspicion of diseases or conditions of systemic or hereditary origin. This case report describes a 45-year-old patient with generalized pulpal calcifications and bulging of the roots in areas corresponding to the pulp chambers in otherwise normal teeth. Similar findings were present in the patient's daughters and brother. This pattern of pulpal calcifications is consistent with the hereditary condition of dentinal dysplasia type Id.

Pulp stones throughout the dentition of monozygotic twins: a case report.

Pulpal calcifications are relatively common. However, their occurrence in the entire dentition is relatively infrequent. The presence of such calcification arouses suspicion of systemic or hereditary origin. This case report describes twin sisters with pulpal calcifications in their entire dentitions. No systemic cause was detected. The pattern of calcification was partially consistent with the hereditary condition of dentinal dysplasia.

Dentin dysplasia, type II: report of 2 new families and review of the literature.

Dentin dysplasia, type II, is an inherited autosomal dominant disorder in which primary teeth are amber and translucent, with pulp chambers obliterated by abnormal dentin. The permanent teeth have a normal coronal morphologic character and coloration but exhibit "thistle tube"-shaped pulp chambers as well as numerous pulpal calcifications. The disorder has traditionally been thought to be somewhat rare; however, this article presents 2 new families in which several generations with the disorder were reported to the authors within a 1-year period. It also includes a review of the literature documenting a total of 17 previously reported families.