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Amelogenesis Imperfecta - in BRIEF • Outlines the Clinical Presentation of Amelogenesis Imperfecta (AI) and How to PRACTICE Lifelong Management

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Amelogenesis Imperfecta - in BRIEF • Outlines the Clinical Presentation of Amelogenesis Imperfecta (AI) and How to PRACTICE Lifelong Management Amelogenesis imperfecta - IN BRIEF • Outlines the clinical presentation of amelogenesis imperfecta (AI) and how to PRACTICE lifelong management. differentiate it from other developmental anomalies. • Highlights the challenges faced in the rehabilitation of patients presenting Restorative management with AI. • Discusses the advantages and disadvantages of various restorative of the adult patient treatment modalities available. M. Patel,*1 S. T. McDonnell,2 S. Iram1 and M. F. W-Y. Chan1 The biggest challenge restorative dentists face in rehabilitating patients with amelogenesis imperfecta (AI) is trying to restore aesthetics, function and occlusal stability while keeping the treatment as conservative as possible. The goals of treatment should be to prolong the life of the patient’s own teeth and avoid or delay the need for extractions and subsequent replacement with conventional fixed, removable or implant retained prostheses. In order to achieve these goals a stepwise approach to treatment planning is required starting with the most conservative but aesthetically acceptable treatment. This article discusses the management of AI and presents the various treatment options available for restoring the adult patient who presents to the dentist with AI. INTRODUCTION inheritance patterns and its prevalence surface loss due to rapid post eruptive break- Amelogenesis is a two-staged process varies from 1:700 to 1:16,000 depending down of hypomineralised enamel. Figures 1b where a protein rich matrix is initially laid on the population studied.3 and 3d highlight the variation in clinical pre- down during the secretary phase, followed The most common classification used for sentation and the difficulty clinicians face in by the mineralisation phase where the pro- AI is based primarily on phenotype alone.4 making a clinical diagnosis of the phenotype teins are replaced by hydroxyapatite crys- Four major categories have been described present. From a practical perspective it may tals. This results in the highly mineralised which include: hypoplastic, hypomatured, not be absolutely necessary to reach a defini- enamel structure. Amelogenesis imperfecta hypocalcified and hypomatured – hypo- tive diagnosis of the phenotype as in most (AI) is a hereditary condition that affects plastic with taurodontism. Table 1 shows cases the management and the treatment the formation of the enamel matrix or the the typical characteristics of each of the dif- options available are often the same. enamel mineralisation process of both the ferent AI phenotypes however, it is important Most patients with AI will first present primary and secondary dentition. It is a to note that any of the phenotypes may coex- to a general dental practitioner whose role clinically and genetically heterogeneous ist in the same patient or on the same tooth. in the management may involve a timely group of conditions that affects both the These four major phenotypes have been referral to the paediatric or restorative quantity and quality of the enamel struc- further divided into 15 subtypes based on specialist, depending on the patient’s ture and the overall appearance of all or mode of inheritance (Table 2). age. This may be for treatment of com- nearly all the teeth in more or less an equal A clinical diagnosis of AI can be aided plex cases or for treatment planning and manner, without reference to chronology.1,2 by asking the patient four questions as advice in management of simpler cases. More recently it has been suggested that AI shown in Table 3.3 This will help differen- The paediatric specialist’s role in the may have a syndromic association due to tiate AI from other enamel defects such as management of AI is to provide support changes noted in other parts of the body.2 fluorosis, which is known to be the com- and reassurance to the child and parents, AI has either autosomal dominant, auto- monest differential diagnosis and can be motivate the child to maintain good oral somal recessive, sex-linked or sporadic difficult to distinguish from AI clinically. hygiene and diet, preserve tooth structure The severity of AI can vary significantly and aesthetics and prevent pain, pathol- 1Barts Helth NHS Trust, Dental Institute, New Road, between patients and often it is difficult to ogy and early tooth loss. The treatment London, E1 1BB; 2Department of Paediatric Den- tistry, Edinburgh Dental Institute, Lauriston Building, make a diagnosis of the phenotype from provided by the paediatric specialist can Lauriston Place, Edinburgh, EH3 9HA; 3Department of clinical examination alone. In some cases the be referred to as a transitional phase. Restorative Clinical Services, Leeds Dental Institute, Clarendon Way, Leeds, LS2 9LU different phenotypes described may coexist Once the patient reaches late adolescence *Correspondence to: Dr Mital Patel in the same patient and on the same tooth. or early adulthood they are often referred Email: [email protected] Clinical presentation can range from mild to restorative specialist for life long man- Refereed Paper discolouration, slight pitting and minimal agement of their dentition in conjunc- Accepted 10 July 2013 DOI: 10.1038/sj.bdj.2013.1045 post eruptive breakdown of enamel to severe tion with the patient’s general dental ©British Dental Journal 2013; 215: 449-457 discolouration, pitting or significant tooth practitioner via a shared care approach. BRITISH DENTAL JOURNAL VOLUME 215 NO. 9 NOV 9 2013 449 © 2013 Macmillan Publishers Limited. All rights reserved PRACTICE RESTORATIVE CHALLENGES Table 1 Clinical and radiographic appearance of the major phenotypes of AI There are many challenges AI patients Hypoplastic form Hypomaturation form Hypocalcified form present with which need to be carefully Reduction in the quantity of Defect in the quality of Defect in the quality of the managed as part of the overall rehabilita- the enamel matrix usually with mineralisation process with normal mineralisation process with normal tion for these patients. Table 4 summarises normal mineralisation quantity of matrix formation quantity of matrix formation some of the common challenges and their Clinical appearance causes that patients often present with. Reduced thickness of enamel Normal thickness of enamel Normal thickness of enamel with It is important that the restorative den- loss of translucency tist takes these factors into account dur- Enamel is usually well mineralised Enamel is hypomineralised and Enamel is very hypomineralised ing treatment planning, if rehabilitation and is therefore less prone to prone to post eruptive breakdown and often of a soft cheesy and life long management of the patient’s attrition than the other forms and attrition consistency. Prone to early rapid dentition is to be successful. of AI post eruptive breakdown and can easily be worn away RESTORATIVE The colour can vary from normal Colour may be affected by post Colour may be affected by post TREATMENT OPTIONS colour and translucency to a eruptive uptake of staining from the eruptive uptake of staining from yellow to dark brown colour oral environment and the degree the oral environment and the Treatment options available to restore depending on how thin the of post-eruptive breakdown. It can degree of post eruptive breakdown patients with AI vary considerably depend- enamel is and the degree of shine vary broadly from mottled opaque and exposure of underlying through of the underlying dentine white to Yellow-brown or dentine. Teeth tend to be darker in ing on several factors such as age of the red-brown discolouration colour than other types of AI patient, patient motivation, periodontal Spacing between teeth as thinner condition, endodontic status, loss of tooth enamel often reduces tooth size structure, severity of disorder, socioeco- nomic status and most importantly the Rough, irregular or pitted enamel with or without vertical ridges patient’s availability for treatment and or grooves cooperation.5,6 Often these patients pre- Radiographic appearance sent young and want a quick result which will improve the appearance of their teeth Enamel contrasts normally Enamel has similar radiodensity Enamel is less radiopaque than from dentine as dentine the dentine allowing them to be accepted by their peers and society in general. However, adopting Table 2 Classification of AI based on phenotype and mode of inheritance a stepwise approach is essential to help preserve and retain the patient’s own teeth Subtype Phenoype Phenotype and mode of inheritance for as long as possible and avoid or delay Type I Hypoplastic the need for prosthetic replacement. Type IA Hypoplastic, pitted autosomal dominant ORAL HYGIENE, DIETARY Type IB Hypoplastic, local autosomal dominant ADVICE, DESENSITISATION Type IC Hypoplastic, local autosomal recessive AND STABILISATION Type ID Hypoplastic, smooth autosomal dominant It is crucial that prevention should be included in the initial stages of all treat- Type IE Hypoplastic, smooth X-linked dominant ment plans with a particular focus on pro- Type IF Hypoplastic, rough autosomal dominant viding effective oral hygiene instruction Type IG Enamel agenesis, autosomal recessive and patient motivation. Treatment of den- Type II Hypomaturation tine hypersensitivity using either desensi- tising agents, topical fluoride preparations Type IIA Hypomaturation, pigmented autosomal recessive and/or CCP-ACP (casein phosphopeptide- Type IIB Hypomaturation, X-linked recessive amorphous calcium phosphate) ���������contain- Type IIC Hypomaturation, snow-capped
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