Isolated dentinogenesis imperfecta and in association with osteogenesis imperfecta – a literature review

Dental development is part of the craniofacial organogenesis, starting from the pluripotent cephalic neural crest cells, continuing with their movement towards the first pharyngeal arch and leading to the development of many elements of the craniofacial structures.Tooth developmental disorders can be caused by genetic abnormalities at any level of the genomic information (chromosomal, monogenic, polygenic-multifactorial). Dentin genetic abnormalities have been known for several years and include two entities: dentinogenesis imperfecta (DI) and dentin dysplasia (DD). Osteogenesis imperfecta (OI) (also known as brittle bone disease) is a connective tissue disorder (collagen disorders) characterized by bone fragility leading to recurrent bone fractures and in the severe forms to bone deformities and shortening. 12 clearly described types of OI and 2 other OI phenotypical entities have been described until present, the best known being due to various COL1A1 and COL1A2 mutations, (genes which encode for the collagen type I pro-alpha 1 and 2 polypeptide chains). Although DI is part of the clinical features reported in OI, not all types of OI have dentin genetic anomalies.For patients with OI, it is extremely important that the clinician understands the possible dental implications associated with the disease. Children with OI should be examined as soon as teeth are erupted to prevent loss of tooth structure and seen frequently to restore any new enamel fracture and maintain their oral health. Genetic testing is available in single-gene or multigene panel analysis and is essential in the diagnosis and in defining the type of OI or DI of each patient.