Inherited dentin defects with comorbidities.

BACKGROUND: Inherited dentin defects comprise a group of rare genetic conditions that disrupt the normal formation, structure, and function of tooth dentin. Disorders such as dentinogenesis imperfecta and dentin dysplasia often have distinctive dental manifestations, including altered tooth color and translucency, abnormal crown and pulp morphology, foreshortened roots, and increased susceptibility to wear and fracture. The genetic sequence variations underlying selected dentin defects can also contribute to multisystem comorbidities, affecting skeletal, ocular, auditory, or kidney development, depending on the specific syndrome involved.

TYPES OF STUDIES REVIEWED: The authors' objective in this review was to synthesize genetic and clinical information on selected disorders affecting tooth dentin. By means of integrating case descriptions and clinical phenotypes, they aimed to help readers understand these disorders and visualize their key features alongside genetic and clinical management strategies. Given the rarity of these conditions, the authors drew on original reports featuring clinical photographs and radiographs, adapting these images into figures.

RESULTS: Through searches of PubMed and Online Mendelian Inheritance in Man databases, more than 60 genes and conditions were reviewed. The authors summarized selected inherited dentin disorders with systemic involvement, outlining their genetic etiologies, characteristic oral and radiographic findings, associated comorbidities, and evidence-based dental management strategies, highlighting the need for integrated care in affected patients.

CONCLUSIONS AND PRACTICAL IMPLICATIONS: Accurate diagnosis of inherited dentin defects is complicated by means of overlapping clinical features and the variability of systemic involvement. Timely recognition and multidisciplinary management are crucial for optimizing oral health and addressing broader medical needs.