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CASE REVIEW Clinical Diagnosis and Management Srategies Of CASE REVIEW Clinical diagnosis and managementstrategies of amelogenesis imperfecta variants W. Kim SeowBDS, MDSc,DDSc, PhD, FRACDS Abstract Amelogenesisimperfecta (AI) is a group of inherited disorders primarily affecting dental enamel. Variants of AI generally are classified as hypoplastic, hypocalcified, or hypomaturationtypes basedon the primaryenamel defect. The aim of this study wasto analyzethe clinical presentations, diagnostic features, and clinical complicationsof different variants of AI. Thirty-two patients from 17families with several subtypes of AI were studied. The results showedthat distinctive clinical features maybe observedin each variant. However,all AI patients suffered commonclinical problemsof poor esthetics, teeth sensitivity, and loss of occlusal vertical dimension. The mildest problemswere found in the pitted hypoplastic type whereasthe most severe problemswere encounteredin the hypocalcified type of AI. Managementstrategies include composite resin veneers and jacket crownsfor anterior teeth as well as steel crownsfor posterior teeth. Knowledgeof the clinical features and dental complications of each variant of AI helps in the diagnosis of the condition and allows institution of early preventive measures.(Pediatr Dent 15:384-93, 1993) Introduction inheritance as determined from family pedigrees. Ac- The term "amelogenesis imperfecta" (AI) now curate diagnosis is clinically important for several rea- reserved for those developmental enamel defects in- sons. First, it is important to exclude the presence of herited primarily as defects of the enamel only. 1 The certain systemic diseases that may show generalized enamel hypoplasia as accompanying signs. 1°-14 Second, prevalence of this condition has been estimated to range ~5 from I in 7182t0 1 in 14,000,3 depending on the popula- accurate diagnosis enables genetic counselling, which tion studied. The etiology of AI is thought to be alter- is often sought by affected families. Third, accurate ation of the genes involved in complex processes of diagnosis leads to the recognition of clinical problems enamel formation and maturation. that are associated with the condition, so preventive A few classifications of AI, based on clinical appear- measures may be instituted early. Fourth, diagnostic ance of the defects as well as the inheritance patterns Table1. Classificationof amelogenesisimperfecta according 1,4,5 have been proposed in the past, the most recent and to Witkop(1989) comprehensive being suggested by Witkop1 (Table 1). In general, the defects in AI may be classified as hypo- Type I Hypoplastic plastic, hypocalcified, or hypomaturation types, de- IA hypoplastic, pitted autosomal dominant IB hypoplastic, local autosomal dominant pending on the stage of enamel formation that is pri- 1 IC hypoplastic, local autosomalrecessive marily affected. The hypoplastic types are characterized ID hypoplastic, smooth autosomal dominant by a deficiency in the quantity of enamel, which maybe IE hypoplastic, smooth Xqinked dominant expressed clinically as thin enamel or pits or grooves IF hypoplastic, rough autosomal dominant on the enamel surface. 1,4,s By contrast, the hypocalcified IG enamel agenesis, autosomalrecessive varieties are characterized by enamel that is insuffi- ciently mineralized, and appear clinically as soft, dis- Type I! Hypomaturation colored enamel that is easily removed. ~, 4. s The IIA hypomaturation, pigmented autosomal hypomaturation types of AI are associated with abnor- recessive IIB hypomaturation, X-linked recessive malities of the maturation stages of enamel formation, IIC snow-capped teeth, autosomal dominant? resulting in the enamel being opaque and chalky in appearance2,4,~ As shown in Table 1, autosomal domi- Type III Hypocalcified nant, autosomal recessive, and X-linked modes of in- IliA autosomal dominant heritance have been reported. IIIB autosomal recessive Although recent research has made significant ad- Type IV Hypomaturation-hypoplasticwith vances into the diagnosis of a few types of AI by mo- taurodontism lecular~and biochemicalgmethods, these sophisticated IVA hypomaturation-hypoplastic with techniques are not yet routinely available. Currently, taurodontism, autosomal dominant diagnosis of the different AI variants rests mainly on IVB hypoplastic-hypomaturation with the dental clinical presentations and their modes of taurodontism, autosomal dominant 384 Pediatric Dentistry: November/December1993 - Volume15, Number6 differentiation of the manyvariants of AI may help to Patients and methods 16-19 determine the type of restorations that are most The study subjects were all referred to the author successful. over the past few years for dental management of Although the genetic defects in the X-linked form of enamel hypoplasia, and diagnosed as having AI by the AI now have been linked to amelogenin genes on the X- 6~ author. A total of 32 subjects (16 males and 16 females) chromosome, the molecular defects associated with from 17 different, unrelated families were available for the other types of AI are still unclear. Hence, the diag- study. At the time of initial dental examination, their nosis of AI currently rests largely on clinical criteria. mean age was 12.8 + 5.6 years (range 7.2-34.5 years). With the exception of a few epidemiological investi- All the patients were examined at the University of gations,3, 20, 2~ previous studies of AI have been mainly Queensland Dental School. The teeth were dried, and a case reports of individuals or small numbers of fami- mirror and probe used for the dental examination. lies.22-3s Erythrosin disclosing dyes were painted on the enamel The aim of the present study was to analyze the of some patients to demonstrate the surface defects. clinical presentations and dental complications in a Bite-wing and panorex radiographs were exposed as group of affected patients to determine the distinct part of their routine dental management.The results of clinical features of each variant. the dental examinations were recorded in comprehen- sive charts. Table2. Characteristicsof familieswith the hypoplasticvariants of amelogenesisimperfecta Family Hypoplastic Likely Clinical Problems Variant Modeof ClinicalFeatures Poor Sensitivity Lossof Inheritance Esthetics of teeth OVD 1 Pitted AD Smalldiscrete pits on all surfaces. + 0 0 Normalcontact between teeth. Normal radiographic contrast of enameland dentin. 2 Pitted AD As above. + 0 0 3 Pitted AD As above. Extensive loss of enamelon + + + occlusal of primary molars. 4 Smooth AD Thin, smooth, hard, glossy enamel. ++ ++ + Whiteto yellow-brownin color. No contact between teeth. Radiographs showthin enamel. 5 Smooth AD As above. No contact betweenteeth. ++ + + Radiographsshow thin layer of enamel. 6 Smooth XL Femalesshow vertical bands of alternating +++ 0 0 normal thick, and abnormalthin enamel in both primary and permanentdentitions. 7 Smooth XL Females show above. Males shows uniformly +++ ++ ++ thin, smoothenamel. (Males) (Males) 8 Smooth XL All females showabove. +++ 0 0 9 Smooth XL In addition to above, one male shows ++ + + anterior openbite. 10 Rough AD Thin, hard enamel with rough surfaces. ++ 0 Minimalcontact between teeth. Radiographs showthin enamel. 11 Rough AD As above. Primary dentition showsthin, ++ 0 0 less rough enamel. 12 Local AR Horizontal pits and grooves of missing enamel ++ + 0 in the middlethird of the crownsof all permanentteeth. The enamel present shows hypomaturationdefects. AD= autosomaldominant; AR= autosomalrecessive; XL = X-linked; OVD= occlusal vertical dimension; + = mildly affected; ++ = moderatelyaffected; +++= severely affected. Pediatric Dentistry: November/December1993 - Volume 15, Number6 385 Table 3. Characteristics of families with the hypocalcified and hypomaturation variants of amelogenesis imperfecta Likely _____Clinical Problems Family Mode of Clinical Features Esthetics Sensitivity Loss of Inheritance Affected of Teeth OVD Hypocalcification 14 AR/XL Enamel appears soft, opaque white-yellow upon eruption. Early loss of enamel. Minimal contact between teeth. Radiographs show enamel loss and lack of contrast between enamel and dentin. 15 AD As above. 16 AR/XL As above. Hypomaturation 17 XL/AR Thin enamel with mottled opaque-white discoloration. Enamel may chip away. Normal contact between teeth. Radiographs show thin enamel and less contrast between enamel and dentin. Mild anterior open bite present. AD = autosomal dominant; AR = autosomal recessive; XL = X-linked; OVD = occlusal vertical dimension; + = mildly affected; ++ = moderately affected; +++ = severely affected. For every proband, a family pedigree chart was con- There were three families with the hypocalcification structed. In an affected family, examination of as many type of Al, and another one that showed the family members as possible was performed. Dental hypomaturation variety. management outcomes are not part of the study de- sign. Pitted hypoplastic Al (autosomal dominant) Clinical features. Five affected children from the Diagnosis of amelogenesis imperfecta three families with the pitted type of Al (Table 2) all A diagnosis of Al was based on the following crite- showed classical features of small, discrete, pinpoint- ria: 1) generalized enamel hypoplasia of both the pri- to-pinhead sized pits, which were arranged in horizon- mary and permanent dentition; 2) family history of the tal or vertical rows (Fig la). In areas of the teeth sub- condition, although in the recessive forms, or new jected to occlusal stresses, there were localized
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