Dentinogenesis Imperfecta

Dentinogenesis imperfecta is a condition characterized by teeth that are translucent and discolored (most often blue-grey or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal, which leads to wear, breakage, and loss of teeth. This damage can include teeth fractures or small holes (pitting) in the enamel. Dentinogenesis imperfecta can affect both primary (baby) teeth and permanent teeth. People with this condition may also have speech problems or teeth that are not placed correctly in the mouth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner.

According to the original classification, there are three types of dentinogenesis imperfecta:

Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. People with this type of dentinogenesis imperfecta have mutations in COL1A1 or COL1A2.

Type II: usually occurs in people without another inherited disorder. Some families with type II also have progressive hearing loss in older age. Type II is the most common type of dentinogenesis imperfecta.

Type III: usually occurs in people without another inherited disorder. Type III was first identified in a group of families in southern Maryland and has also been seen in individuals of Ashkenazi Jewish descent.

Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder.