Dentinogenesis imperfecta: An early treatment strategy

Department of Pediatric Dentistry, the Hebrew University-Hadassah Faculty of Dental Medicine, Jerusalem, Israel.
Pediatric dentistry (Impact Factor: 0.56). 01/2001; 23(3):232-7.
Source: PubMed

ABSTRACT Dentinogenesis imperfecta (DI) type 2 is a disease inherited in a simple autosomal dominant mode. As soon as the teeth erupt the parents may notice the problem and look for a pediatric dentist's advice and treatment. Early diagnosis and treatment of DI is recommended, as it may prevent or intercept deterioration of the teeth and occlusion and improve esthetics. The purpose of this article is to present the objectives, treatment options, and problems encountered in the treatment of DI in the early primary dentition. A two-stage treatment of a toddler under general anesthesia is described and discussed. This paper recommends for severe cases of DI two treatment stages performed under general anesthesia. Stage 1 is early (around age 18-20 months) and is directed to covering the incisors with composite restorations and the first primary molars with preformed crowns. Stage 2 (around age 28-30 months) seeks to protect the second primary molars with preformed crowns and cover the canines with composite restorations.

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    • "The early treatment of teeth with DI should aim to ensure good occlusion and esthetics, favorable growth of the facial bones and tempromandibular joints, and a favorable condition for the eruption of the permanent successors. Treatment includes caries prevention, attrition observation, monitoring the development of the craniofacial skeleton, and placement of artificial crowns to prevent excessive loss of the tooth structure when the deciduous teeth begin to wear (Levin, 1981; Ranta et al., 1993; Sapir and Shapira, 2001). In the present case study, the deciduous teeth manifested multiple carious lesions, attrition , and rapid wear. "
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    ABSTRACT: Dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI) is a genetic disorder that affects the connective tissues and results in dentine dysplasia. This case report discusses the systemic and dental manifestations of OI and DI in a 4-year-old child, with moderate presentation of both disorders, who was treated at King Fahd Military Medical Complex in Dhahran. Dental treatment included the use of strip and stainless-steel crowns under local anesthesia, as well as behavior modification techniques. Rigorous home care instructions, including reinforcement of the oral hygiene practice and avoidance of any episode that may lead to bone fracture, were discussed with the parents. The case was reevaluated at 3-month follow-up visits, wherein the medical and dental histories were updated, the child’s growth was monitored, periodic clinical and radiographic examinations were performed, and the oral hygiene was evaluated via the debris index score and caries risk assessment. Further treatment of the permanent dentition may be needed in the future.
    Saudi Dental Journal 10/2013; 25(4). DOI:10.1016/j.sdentj.2013.10.004
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    • "Therefore, these diseases do not seem to be separate entities, but rather allelic ones with varying phenotypes according to the nature of the mutation. DGI type III is no longer considered as a phenotype specific to the Brandywine isolate because similar clinical features have been reported in families of different origins (Heimler et al, 1985; Sapir and Shapira, 2001). Furthermore, a genetic study revealed that the disease causing mutation in the Brandywine isolate is identical to DSPP gene mutation (c.49C>T, p.P17S) observed in a Chinese family having DGI type II (Hart and Hart, 2007; Zhang et al, 2007). "
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    ABSTRACT: Hereditary dentin defects can be grouped into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia. Tooth enamel is considered normal in patients with hereditary dentin defects, but is easily worn down and fractured due to DSPP mutation-induced altered dentin properties. The purposes of this study were to identify genetic cause of a family with type II DGI and enamel defects. We identified a family with type II DGI and a unique form of hypoplastic enamel defect affecting occlusal third of the crown. Family members were recruited for the genetic analysis and DNA was obtained from peripheral whole blood. Mutational analysis revealed a T to A transversion in exon 3 of the DSPP (c.53T>A, p.V18D). Haplotype analysis showed that the same mutation arose separately in two different families having DGI with similar enamel defects, indicating that this phenotype is associated with this specific DSPP mutation. Clinical features suggest that enamel formation was affected in the affected individuals during early amelogenesis, in addition to the dentin defect. We observed that a DSPP gene mutation not only influences dentinogenesis but also affects early stage amelogenesis.
    Oral Diseases 10/2010; 17(3):314-9. DOI:10.1111/j.1601-0825.2010.01760.x · 2.40 Impact Factor
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    • "Furthermore, the classification system was developed without knowledge of the genetic defects underlying these diseases. The distinguishing DGI type III feature (large pulp chambers resembling shell teeth, especially in young deciduous teeth) was occasionally observed in DGI kindreds outside the Brandywine isolate (Bixler et al. 1969; Esposito and Vergo 1978; Heimler et al. 1985; Sapir and Shapira 2001). Malmgren et al. (1988) have reported a 16-month-old patient with large pulp chambers and periapical radiolucencies in a six-generation DGI type II family and have recently identified (Malmgren et al. 2004) the underlying mutation (p.R68W) in the DSPP gene. "
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    ABSTRACT: The current system for the classification of hereditary defects of tooth dentin is based upon clinical and radiographic findings and consists of two types of dentin dysplasia (DD) and three types of dentinogenesis imperfecta (DGI). However, whether DGI type III should be considered a distinct phenotype or a variation of DGI type II is debatable. In the 30 years since the classification system was first proposed, significant advances have been made regarding the genetic etiologies of inherited dentin defects. DGI type II is recognized as an autosomal dominant disorder with almost complete penetrance and a low frequency of de novo mutations. We have identified a mutation (c.52G-->T, p.V18F) at the first nucleotide of exon 3 of the DSPP (dentin sialophosphoprotein) gene in a Korean family (de novo) and a Caucasian family. This mutation has previously been reported as causing DGI type II in a Chinese family. These findings suggest that this mutation site represents a mutational "hot spot" in the DSPP gene. The clinical and radiographic features of these two families include the classic phenotypes associated with both DGI type II and type III. Finding that a single mutation causes both phenotypic patterns strongly supports the conclusion that DGI type II and DGI type III are not separate diseases but rather the phenotypic variation of a single disease. We propose a modification of the current classification system such that the designation "hereditary opalescent dentin" or "DGI type II" should be used to describe both the DGI type II and type III phenotypes.
    Human Genetics 02/2005; 116(3):186-91. DOI:10.1007/s00439-004-1223-6 · 4.52 Impact Factor
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