Is there a connection between osteogenesis imperfecta (OI) and dentinogenesis?

From the Guidelines

There is a strong connection between osteogenesis imperfecta (OI) and dentinogenesis imperfecta (DI), with approximately 50% of individuals with OI also having dentinogenesis imperfecta, as both conditions stem from mutations in the same genes that code for type I collagen. This connection is crucial to understand, as it affects the management and treatment of patients with OI. The dental manifestations of OI are most commonly seen in OI types III and IV, while they're less frequent in type I 1.

Key Points to Consider

• Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones, and it can also affect the teeth, leading to dentinogenesis imperfecta (DI) 1.
• The connection between OI and DI exists because both conditions stem from mutations in the same genes that code for type I collagen (primarily COL1A1 and COL1A2) 1.
• Type I collagen is essential for proper formation of both bone and dentin (the layer beneath tooth enamel), and when these collagen proteins are defective, both skeletal and dental tissues develop abnormally.
• Patients with OI should receive early dental evaluation and ongoing dental care to manage these issues, including protective dental restorations, crowns to prevent wear and fractures, and sometimes complete coverage with dental prosthetics.

Dental Anomalies Associated with OI

• Dental anomalies of structure, such as dentinogenesis imperfecta, are rare conditions characterized by dysplasia of dental hard tissues and may be caused by genetic conditions, including OI 1.
• Other dental anomalies, such as taurodontism, microdontia, and dilaceration, may also be associated with OI, although the exact relationship is not fully understood.
• Early diagnosis and treatment of these dental anomalies are crucial to prevent further complications and improve the quality of life for patients with OI.

Recommendation

Patients with OI should receive regular dental check-ups and ongoing dental care to manage their dental health and prevent complications associated with dentinogenesis imperfecta and other dental anomalies. This is supported by the latest evidence, which highlights the importance of early intervention and ongoing management to improve the quality of life for patients with OI 1.

From the Research

Connection between Osteogenesis Imperfecta and Dentinogenesis

• Osteogenesis imperfecta (OI) and dentinogenesis imperfecta (DI) are connected as they can occur together as a result of genetic disorders that affect the connective tissues 2, 3.
• DI is a condition that affects the structure of dentine, leading to discoloration and structural defects in teeth, and is often associated with OI 4.
• The connection between OI and DI is due to the fact that they can be caused by mutations in the same genes, such as those encoding collagen type 1 (COL1A1 and COL1A2) 4, 5.
• Studies have shown that patients with OI are more likely to have dental abnormalities, including DI and malocclusion 5.

Clinical Manifestations and Treatment

• The clinical manifestations of OI and DI include brittle bones, fractures, and dental problems such as discoloration and structural defects in teeth 2, 4.
• Treatment for OI and DI typically involves a multidisciplinary approach, including dental care, physical therapy, and medical management 2, 5.
• Dental treatment for DI may include the use of crowns, over-dentures, and dental implants, as well as behavior modification techniques and rigorous home care instructions 2, 4.
• Medical therapies, such as bisphosphonates, may be used to reduce fracture risk and improve bone density in patients with OI 5, 6.

Genetic Basis and Diagnosis

• The genetic basis of OI and DI is complex, and diagnosis is typically based on a combination of family history, pedigree construction, and detailed clinical examination 4, 3.
• Genetic testing may become useful in the future once sufficient disease-causing mutations have been discovered 4.
• Differential diagnoses for DI include other conditions that affect the teeth and bones, such as hypocalcified forms of amelogenesis imperfecta and congenital erythropoietic porphyria 4.