Amelogenesis Imperfecta (AI) is an inherited disorder resulting in abnormal enamel formation in the primary and permanent dentition. This genetic mutation alters the quality and quantity of enamel resulting in poor aesthetics, sensitivity and susceptibility to breakdown. Patients often note of a decreased quality of life and a high restorative treatment need with lifelong specialist care is often required.
A 9-year-old girl was referred for assessment to the Department of paediatric Dentistry by her general dentist due to an “ abnormal dental appearance”. Her main complaint was “brown discolouration of her teeth” which had been present since eruption. Her primary dentition had been similarly affected. Medical history was non-contributory. Family history was remarkable for a similar dental appearance in 2 of her siblings. On examination she presented in the mixed dentition with generalised dental hypoplasia and pitting. Oral hygiene was poor with a generalised gingivitis. Radiographic exanimation revealed caries of all second primary molars and reduced enamel thickness. A diagnosis of hypoplastic pitted AI was established.
Initial management included intensive prevention followed by direct and indirect composite restoration of upper anterior teeth to improve aesthetics. Preformed metal crowns were placed on the carious second primary molars. The first permanent molars were restored using cast metal restorations despite severe tooth tissue loss.
AI provides a considerable restorative challenge, and this case highlights importance of timely management in the paediatric patient.