Dentinogenesis imperfecta

Dentinogenesis imperfecta
Oral photographs from an individual with Dentinogenesis imperfecta
Specialty	Dentistry

Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP).^{[1][2][3][4][5]} It is one of the most frequently occurring autosomal dominant features in humans.^[6] Dentinogenesis imperfecta affects an estimated 1 in 6,000-8,000 people.^[7]

This condition can cause teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent, giving teeth an opalescent sheen.^{[2][3][8][5][9]} Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.^{[2][3][4][5][8]} These problems can affect baby (primary/deciduous) teeth alone, or both baby teeth and adult (permanent) teeth, with the baby teeth usually more severely affected.^[5][8]

Although genetic factors are the main contributor for the disease, any environmental or systemic upset that impedes calcification or metabolisation of calcium can also result in anomalous dentine.