Familial clustering of Amelogenesis Imperfecta – a case study

Abstract

Amelogenesis Imperfecta (henceforth: AI) is a term used to determine congenital qualitative and quantitative enamel defects, concerning both deciduous and permanent dentition. Classification of AI is based on the phenotype of lesions and is included in numerous types of classifications, among which the Witkop classification is the most popular. Apart from enamel abnormalities, patients afflicted with AI may also have other disorders, e.g. congenital deficiencies of tooth buds, pulp calcification, root and crown resorption, open bite. Aesthetic defects of dentition, pain reported when consuming acidic and hot foods, difficulties in obtaining satisfactory hygiene - all these significantly affect the quality of life of patients with AI. Care provided to these patients is highly specialised and starts as early as in early childhood. Aim. The aim of the study was to describe familial clustering, types, symptoms and treatment of Amelogenesis Imperfecta in members of two families treated at the Department of Orthodontics at the Medical University of Warsaw. Material and methods. The material comprised two unrelated families with clinically manifested symptoms of AI, treated at the Department of Orthodontics at the Medical University of Warsaw. A detailed interview, clinical examination and analysis of radiological documentation were conducted in each family. Results. All patients in the study were suffering from hypoplastic AI, their hygiene was satisfactory, four in five patients had an open bite. Reported symptoms did not differ from those most commonly described in the literature, and included discomfort while eating acidic and hot food, and excessive enamel abrasion. Conclusions. Treatment of patients with AI is multi-stage, multidisciplinary, and aims to restore proper functions of the dentition, as well as to obtain a correct occlusion, skeletal relationships, and to reduce hypersensitivity to thermal and chemical stimuli. Preventive measures are important, and should be introduced early, during the stage of the deciduous dentition, and be related to hygiene briefing and monitoring. (Kornet A, Kornet M, Domańska R, Perkowski K, Marczyńska-Stolarek M, Zadurska M. Familial clustering of Amelogenesis Imperfecta – a case study. Orthod Forum 2018; 14: 61-72)