2025 BMJ case reports

Comprehensive management and oral rehabilitation of amelogenesis imperfecta: a multidisciplinary treatment approach.

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BMJ case reports Vol. 18 (1) • Jan 2025

Amelogenesis imperfecta (AI) is a genetic disorder that affects both primary and permanent teeth. It primarily manifests as developmental disorders of enamel. The condition occurs independently of other systemic disorders and is caused by mutations in genes responsible for enamel formation, inherited in autosomal dominant, autosomal recessive or X-linked patterns. Diagnosis of AI involves a combination of clinical examination, medical history review and imaging studies. Clinicians typically look for characteristic signs such as abnormal enamel colour, texture and thickness, with family history also playing an important role. AI can present as hypoplastic, hypocalcified or hypomaturation defects, leading to issues like tooth sensitivity, poor aesthetics and reduced vertical dimension. Genetic counselling is advised for families to understand the hereditary nature of AI. Effective management of AI requires comprehensive care, regular monitoring and personalised treatment plans with a multidisciplinary approach to improve both the functionality and aesthetics of the patient.

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