Amelogenesis imperfecta (AI) is a heterogeneous group of genetically inherited conditions resulting in abnormal enamel formation in all teeth of both dentitions. It is a rare disorder with poorly understood prevalence, likely due to population variations and different study methodologies. The Witkop classification has developed over time with major types of AI described by clinical features including hypoplastic, hypomaturation, hypocalcified AI and hypomaturation–hypoplastic with taurodontism, with recognition of links to developmental dentine disorders (1988) (Fig. 1). Witkop restricted the term AI to situations where this occurred in isolation of other, co-segregating health issues. As genetic studies have brought new insight into the molecular basis to inherited enamel defects, there has been greater recognition of how AI links to wider health issues, including to some named syndromes (Smith et al. 2017; Wright 2023). It also offers new opportunities in improving understanding the boundaries between what is AI and what are enamel defects due to other reasons (Collignon et al. 2022). This fast evolving knowledge offers greater insight into AI, with the potential of genetic diagnosis and how this impacts the management of different AI types yet to be realised (Smith et al. 2017; Wright 2023).

Examples of the three major AI types. a Anterior photograph of a child with hypoplastic AI in the permanent dentition; b anterior photograph of a child with hypomaturation AI in the permanent dentition; c anterior photograph of a child with hypocalcified AI showing calculus, enamel breakdown and restoration failure due to decreased composite bond strength

Children, young people and their families can be adversely affected by AI, with significant reduction in oral health-related quality of life (OHRQoL). Most issues relate to aesthetic and hypersensitivity concerns, with children reporting bullying and difficulties eating due to pain (Lyne et al. 2021). Furthermore, children find dental treatment difficult, often feeling that dentists do not understand the condition or address their concerns (Parekh et al. 2014; Pousette Lundgren, Karsten and Dahllöf, 2015a; Pousette Lundgren et al. 2015a, b; Pousette Lundgren et al. 2016). This poses considerable issues, as treatment of AI is protracted, particularly until all the teeth have erupted, with a considerable commitment to ongoing care by the children and their families (Lafferty et al. 2021).

Dentinogenesis imperfecta (DI) and dentine dysplasia are autosomal dominant disorders, where dentine forms abnormally (de La Dure-Molla, Philippe Fournier and Berdal, 2015). Patients present with discoloured, opalescent dentine that can wear easily, with frequent enamel breakdown. Patients have reported aesthetic and functional limitation; however, due to pulp canal obliteration, they rarely have pain or dental infection (Fig. 2). This condition in some specific instances is associated with osteogenesis imperfecta (OI). Increasing use of bisphosphonates in OI treatment should be considered when treatment planning for these cases. Although there are no known reports of medication-related osteonecrosis of the jaws (MRONJ) in children, care should be given to adequate medium- and long-term planning and prevention is paramount (Neal and Schlieve 2022).

Anterior photograph of a child with dentinogenesis imperfecta (DI)

From a clinician’s perspective, AI and DI present multiple challenges including clear pathways for the patients to reach specialist services in a timely way, continued attendance over many years and appropriate transfer of children to adult services. Furthermore, there are often difficulties with bonding, increased dental anxiety, associated dental anomalies and/or orthodontic malocclusion. These are rare conditions, so the literature on evidence-based care is scarce and mostly reliant on case reports, with rare randomised control trials and systematic reviews (Dashash et al. 2013). The need for increased knowledge and peer support led to the development of a group of UK paediatric dentists with a special clinical interest in the management of children with AI and DI. The need for a more coordinated approach to patient care within a supportive environment is clear.

The aims of this paper are to describe the establishment of an AI/DI clinical excellence network (AI/DI CEN) in paediatric dentistry including outputs and future plans, and to share our collective learning to help support others anywhere in the world advance the care of people with AI or DI.