Amelogenesis imperfecta: Analysis of the genetic basis and treatment with a digital workflow: A clinical report.

Abstract

A 20-year-old woman with type I hypoplastic amelogenesis imperfecta (AI) experiencing esthetic concerns and hypersensitivity is presented. The treatment was aimed at both functional and esthetic aspects, focusing on complete mouth rehabilitation using a fully digital workflow. In an interdisciplinary approach, a multigene panel analysis was performed. Digital intraoral scans and a face scan facilitated precise virtual planning, guiding minimally invasive preparations. Long-term interim restorations milled from high-performance polycarbonate preceded definitive restorations in translucent zirconia. This approach resulted in a time- and cost-efficient treatment, helped the patient to understand her disease by highlighting the pivotal role of genetics, and demonstrated the success of collaborative dental interventions. A strict recall program will be most important for the long-term success of this patient with AI and a pathogenic frameshift variant in the AMELX gene.