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Orphanet Journal of Rare Diseases Nov 2008The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by... (Review)
Review
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.
Topics: Chromosomes, Human, Pair 4; Dentin; Dentin Dysplasia; Dentinogenesis Imperfecta; Extracellular Matrix Proteins; Humans; Phosphoproteins; Sialoglycoproteins
PubMed: 19021896
DOI: 10.1186/1750-1172-3-31 -
The Journal of Clinical Pediatric... 2019Dentinogenesis Imperfecta type II (DI2), also known as hereditary opalescent dentin, is one of the most common genetic disorders affecting the structure of dentin, not... (Review)
Review
Dentinogenesis Imperfecta type II (DI2), also known as hereditary opalescent dentin, is one of the most common genetic disorders affecting the structure of dentin, not related with osteogenesis imperfecta, which involves both primary and permanent dentitions. The purpose of this article is to perform a scoping review of the published peer-reviewed literature (1986-2017) on DI2 management in children and to outline the most relevant clinical findings extracted from this review. Forty four articles were included in the present scoping review. According to the extracted data, the following are the most important tasks to be performed in clinical pediatric dentistry: to re-establish the oral mastication, esthetics, and speech, and the development of vertical growth of alveolar bone and facial muscles; to reduce the tendency to develop caries, periapical lesions and pain; to preserve vitality, form, and size of the dentition; to avoid interfering with the eruption process of permanent teeth; to decrease the risk of tooth fractures and occlusion disturbances; to return the facial profile to a more normal appearance; and to prevent or treat possible temporomandibular joint problems. Therefore, Pediatric Dentists should bear in mind that early diagnosis and treatment, together a long-term follow-up of DI2 in children, continue to be the best approaches for achieving enhanced patient psychological well-being and, in consequence, their quality of life.
Topics: Child; Child, Preschool; Dental Care for Children; Dentinogenesis Imperfecta; Dentition, Permanent; Esthetics, Dental; Humans; Quality of Life
PubMed: 30964718
DOI: 10.17796/1053-4625-43.3.1 -
Journal of Veterinary Dentistry Dec 2022This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two unrelated young dogs without evidence of... (Review)
Review
This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two unrelated young dogs without evidence of concurrent osteogenesis imperfecta. The dentition was noted to have generalized coronal discoloration ranging from grey-blue to golden brown. Clinical pulp exposure, coronal wear and fractures were observed as was radiographic evidence of endodontic disease, thin dentin walls or dystrophic obliteration of the pulp canal. The enamel was severely affected by attrition and abrasion despite histologically normal areas; loss was most likely due to poor adherence or support by the underlying abnormal dentin. Histologically, permanent and deciduous teeth examined showed thin, amorphous dentin without organized dentin tubules and odontoblasts had dysplastic cell morphology. Primary dentin disorders, including dentinogenesis imperfecta and dentin dysplasia, have been extensively studied and genetically characterized in humans but infrequently reported in dogs. Treatment in human patients is aimed at early recognition and multi-disciplinary intervention to restore and maintain normal occlusion, aesthetics, mastication and speech. Treatment in both humans and canine patients is discussed as is the documented genetic heritability of primary dentin disorders in humans.
Topics: Humans; Dogs; Animals; Dentinogenesis Imperfecta; Esthetics, Dental; Odontoblasts; Osteogenesis Imperfecta; Dentin; Dog Diseases
PubMed: 36113440
DOI: 10.1177/08987564221123419 -
American Journal of Medical Genetics Nov 2001
Review
Topics: Aging; Bone Diseases, Developmental; Dentinogenesis Imperfecta; Dentition, Permanent; Humans; Infant; Male; Syndrome; Tooth, Deciduous
PubMed: 11746032
DOI: 10.1002/ajmg.10031 -
European Journal of Human Genetics :... Apr 2015Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered dentin structure. Dentin extra cellular... (Review)
Review
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.
Topics: Collagen Type I; Dentin; Dentin Dysplasia; Dentinogenesis Imperfecta; Extracellular Matrix Proteins; Genetic Variation; Humans; Mutation; Phenotype; Phosphoproteins; Sialoglycoproteins
PubMed: 25118030
DOI: 10.1038/ejhg.2014.159 -
Quintessence International, Dental... Jun 1981
Topics: Adolescent; Dentinogenesis Imperfecta; Female; Humans; Radiography
PubMed: 6945620
DOI: No ID Found -
International Journal of Orthodontics Mar 1973
Topics: Child; Child, Preschool; Dentinogenesis Imperfecta; Female; Genes, Dominant; Humans; Male; Pedigree
PubMed: 4512282
DOI: No ID Found -
Journal of the American Dental... Oct 1956
Topics: Dentin; Dentinogenesis Imperfecta; Humans
PubMed: 13366567
DOI: No ID Found -
Oral Surgery, Oral Medicine, and Oral... Sep 1954
Topics: Dentin; Dentinogenesis Imperfecta; Glutamates; Humans
PubMed: 13194305
DOI: 10.1016/0030-4220(54)90298-4 -
Journal - Oklahoma Dental Association 2007
Topics: Adult; Chromosomes, Human, Pair 4; Dentinogenesis Imperfecta; Humans; Male; Tooth Discoloration
PubMed: 17802895
DOI: No ID Found