dentinogenesis imperfecta type 3

Dentinogenesis imperfecta type 3 (DGI-3) is a severe inherited disorder affecting the structure and appearance of teeth. It is characterized by opalescent primary and permanent teeth that exhibit marked attrition, large pulp chambers, multiple pulp exposures, and a distinctive hollow appearance on radiographs, often described as shell teeth. The condition is caused by pathogenic variants in the DSPP gene and is inherited in an autosomal dominant pattern, meaning that only one altered copy of the gene is needed to cause the disorder. Prevalence details are not well established, and clinical presentation can vary among affected individuals.

Individuals with dentinogenesis imperfecta type 3 typically present with discolored, opalescent teeth that are more prone to rapid wear and damage due to marked attrition. Dental evaluations and radiographs reveal large pulp chambers, multiple areas of pulp exposure, and a characteristic shell-like appearance of the teeth. Not all individuals experience every feature, and the severity and specific presentation of dental anomalies vary widely between affected individuals.

Dentinogenesis imperfecta type 3 is caused by pathogenic variants in the DSPP gene, which is essential for the proper formation of dentin, the tissue underlying tooth enamel. The condition follows an autosomal dominant inheritance pattern, which means that a single altered copy of the gene can result in the disorder. Consequently, an affected individual has a 50% chance of passing the mutation on to their offspring. That even among individuals carrying the same genetic change, the dental manifestations can vary considerably (variable expressivity).

Currently, management of dentinogenesis imperfecta type 3 focuses on supportive care and symptom management, as there are no FDA-approved or foundational therapies specifically for this condition. A multidisciplinary dental care team, including general dentists, orthodontists, and restorative specialists, typically works together to develop a treatment plan aimed at preserving tooth structure and function. Regular dental care, preventive treatments, and restorative procedures are tailored to the individual's needs, and genetic counseling is recommended for affected families to understand inheritance risks and explore management options.

Outcomes for individuals with dentinogenesis imperfecta type 3 vary based on the severity of dental involvement and the quality of dental care received. Many individuals are able to maintain satisfactory oral function into adulthood through careful management and modern restorative techniques. Severity and symptoms vary widely between individuals, and improvements in dental care continue to enhance quality of life. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with dental specialists and genetic counselors for ongoing support and guidance.