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AUTOSOMAL RECESSIVE ROUGH HYPOPLASTICTYPE-1 AMELOGENESIS IMPERFECTA

ABSTRACT: Amelogenesis Imperfecta (AI) is a severe disorder affecting patient's quality of life with relation totheir oral health and may have serious psychological impact on them. From this point of view, people with AI needextensive treatment. While planning the treatment, several factors must be taken into account like patient's age, theiraffordability, pattern and the nature of AI. Moreover, although rare, some dental anomalies may accompany the AIcases.This case report presents restorative management of an Autosomal Recessive Rough Hypoplastic AI. The patientwas looking for a cost effective solution of her aesthetic problem and replacement of her missing teeth. Themanagement of her case involved direct and indirect restorations. Contemporary treatment modalities comprisingof adhesive restorative techniques, removable partial dentures and stainless steel metal crowns were used in thiscase report. Patient reported her comfort with the restorative treatment on her follow up visits.HOW TO CITE: Shahbaz U, Quadir F, Hosein T . Autosomal Recessive Rough Hypoplastic Type-1 AmelogenesisImperfecta. J Pak Dent Assoc 2014; 23(3):131-135

INTRODUCTION

here are many developmental defects which havegenetic source. Some of them affect almost allthe teeth in a more or less equal manner by

altering the configuration and form of enamel.Amelogenesis imperfecta (AI) represents one such group,which may be related to structural or organic changesoccurring somewhere else in the body. According to thepopulations studied, its incidence fluctuates from 1:700to 1:14,000. The presentation of the defected enamelmay be hypoplastic, hypomineralised or both resultingin sensitive, discolored dentition which is susceptible tobreakdown. AI may occur alone or may be linked withother conditions. It can be of autosomal dominant,autosomal recessive, sex-linked or sporadic type1.Amelogenesis imperfecta (non-syndromic form) hasbeen found to be caused due to mutations in certaingenes such as AMELX, MMP20, KLK-4 and ENAM.

These genes provide instructions for the synthesis ofcertain proteins that are responsible for normal toothdevelopment including the normal enamel synthesis,which is a hard, calcium-rich protective outer layer ofthe teeth. Alteration in any of these genes changes thestructure of these proteins interfering with their functionand therefore prevents the genes from making any proteinat all. As a result, the tooth enamel produced is unusuallysoft, thin and discolored and damages very easily.

Amelogenesis imperfecta can also be acquired in anautosomal recessive pattern resulting usually frommutations in the ENAM or MMP20 gene. In this type,mutation occurs in two copies of the gene in each cell.AI is mostly inherited in an autosomal dominant patternwhich results due to an alteration in the ENAM gene.In this type, mutation in even one copy of the gene ineach cell is enough to cause the disorder. Few othertypes of AI may result due to mutation in certain newgenes or in individuals with no previous family historyof this condition2,3.

AI causes a lot of clinical problems including teeththat are very sensitive due to defective enamel. There isa loss of occlusal vertical dimension and dysfunctionwith compromised aesthetics. A timely treatment of thesedefects results in a positive psychological impact on the

T

1. Assistant Professor Department of Operative Dentistry Fatima Jinnah Dental College,Karachi.2. Assistant Professor Department of Operative Dentistry Dow Dental College, Karachi.3. Professor and Dean Fatima Jinnah Dental College, Karachi.< hosein.tasleem@gmail.com >Corresponding author: “Dr Fauzia Qadir” < fzb80@hotmail.com >

Uzma Shahbaz1 BDS, FCPSFauzia Quadir2 BDS, FCPSTasleem Hosein3 BDS, FDSRCS

CASE REPORT

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patient because of improved esthetics and function4.Aberrations are seen in tooth number, crown morphology,pulp-dentine tissue, and in the eruption process. Gingivalconditions and oral hygiene of such patients is usuallypoor, with calculus being found frequently. Patients maysuffer from malocclusions5.

Amelogenesis imperfecta may also present in thehypoplastic form, in which the enamel may be pitted,rough, or with irregular vertical ridges of normal anddefective enamel. There is as inadequate depth of theenamel seen in this type of AI, resulting in a lack ofinterproximal contacts6. Current case report presentsrestorative management of a case of type 1 AI.

CLINICAL REPORT

A 17 year old female patient was referred to theProsthodontics department, Fatima Jinnah DentalHospital, Karachi, for the replacement of missing anteriorteeth. The girl was worried about the appearance of herteeth and wanted an immediate replacement. The girlwas later referred to the Operative department becauseof the general appearance of her remaining permanentanterior teeth which lacked the normal form and thicknessof enamel.

The clinical examination showed hypoplastic 13, 21,22, 23, 31, 32, 33, 41, 42, 43 and all four permanentfirst molars. Affected teeth were thin, small teeth withrough and pitted enamel surface. Crown size was smallerthan the normal with lack of proximal contact and anterioropen bite affecting the upper and lower anterior teethalong with first permanent molars. Second molars andpremolars however, were spared. The teeth no. 11 and12 were missing and exhibited a significant loss ofhorizontal and vertical bone volume (Fig no 1 toFig no 5). According to the patient the missing teeth

never erupted. The oral hygiene of the patient was poorwith hyperemic and edematous gingiva. Medical historyand extra oral examination was non-contributory. Aworking diagnosis of Autosomal Recessive Rough

Hypoplastic AI was made. Radiograph examinationrevealed periapical infection in tooth no 31.

An ideal treatment plan that included orthodonticrepositioning of teeth to more favourable location

Autosomal Recessive Rough Hypoplastic Type-1Amelogenesis ImperfectaShahbaz U / Quadir F / Hasein T

Fig no 1 Preoperative view from fornt

Fig no 2 Preoperative view from left lateral side

Fig no 3 Preoperative view from right lateral side

Fig no 4 Occlusal view (upper arch)

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followed by ceramic veneer on anterior teeth and lithiumdisilicate crowns on first permanent molar, placementof implants and guided bone regeneration to replacecongenitally missing right central and lateral incosorswas turned down by patient owing to financial constraintsand lack of time. Our alternate and cost effective treatmentplan accepted by the patient included improvement inoral hygiene, direct composite restorations, full coveragemetal crowns for the affected teeth and a removablepartial denture for missing teeth.

Oral hygiene instructions, scaling, and root planningwere done to improve her periodontal status. Two weekslater, the gingival edema and hyperemic appearance ofgingiva resolved and bleeding on probing returned tonormal.

All permanent first molars were prepared to receivefull metal crowns, impression was performed withpolyvinyl siloxane putty and light body (3M ESPE) ina single step technique using stock trays. The preps weretemporized with self cure acrylic crowns. 5 days laterfull metal crowns were cemented on all the first molarsusing a type 1 GIC cement (GC-Gold label) (Fig no 6& 7). Composite veneers were done on all the affected

anterior upper and lower teeth using Ceram X monocomposite (Dentsply) shade M1 without any preparation.

No attempt was made to close the proximal gaps betweenthe teeth as there was not much tooth structure to supportsuch restoration. The idea was to strengthen the remainingtooth structure, improve esthetics and to protect the teethfrom further damage.

Upper and lower jaw impressions were taken withalginate for the fabrication of a partial denture for missingteeth 11 and 12. A wax trial was done to check for shapeand color of the teeth. The acrylic partial denture wasinserted and appropriate occlusal adjustment was done(Fig 8,9,10 & 11).

Autosomal Recessive Rough Hypoplastic Type-1Amelogenesis ImperfectaShahbaz U / Quadir F / Hasein T

Fig no 5 Occlusal view (lower arch)

Fig no 6 Metal crowns on mandibular molars

Fig no 7 Metal crowns on maxillary molars

Fig no 8 Postoperative view (right lateral)

Fig no 9 Postoperative view (left lateral)

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The patient was given instructions on cleaning ofinterproximal areas and partial denture. The patient wasreexamined after 1 week. The patient was recalled forfollow-up visits at 3 and at 6 months. No issues werenoticed during this period related to her esthetics orfunction.

DISCUSSION

The presented clinical situation was rare and requireduse of treatment to protect and strengthen the affected

teeth as well as improve esthetics and restore function.The patient was looking for a cost effective solution ofher esthetic problem and replacement of missing teeth.She was not aware of the compromised structure of herfirst permanent molars and hypoplastic anterior teethand therefore acceptance of treatment for those teethrequired her understanding and cooperation. The approachto this situation was made by discussing the treatmentoptions along with material available for veneering heranterior teeth for giving her esthetic results, with thepatient and parents.

In cases of hypoplastic AI, the enamel is properlymineralized, but its amount is deficient. The fine enamelsurface is thin, hard, and rough due to presence of ridgesand grooves. The teeth have crowns tapering downwardswith deficient contact points. A thin border of radiopaqueenamel is seen on radiographs with very low cuspalheight or entirely absent cusps of the teeth(7,8). Clinicallyand radiographically, our case was harmonious withrough pattern hypoplastic type AI.

Many other dental and skeletal developmental defectsmay be accompanied with AI, such as taurodontism, rootresorption, attrition, dens in dente, pulp stones, toothimpaction, anterior open bite and agenesis of teeth. Theeruption of the teeth may be delayed in such cases andsometimes teeth may not be formed entirely. In our case,missing teeth, disturbed eruption, anterior open bite werepresent9.

The gingiva of our patient was hyperemic andedematous. Until now, 40 papers have been publishedreporting the gingival conditions of patients with AI,and 28 of them had edematous and hyperemic gingivae(9).This condition is perhaps contributed by mouth breathingand reluctance to brush because of sensitive teeth(8,9).Along with poor oral hygiene, these factors adverselyaffect the prognosis of the prosthetic treatment(1,8). Theoral health of our patient was maintained afterconventional periodontal therapy.

The management of amelogenesis imperfect usuallyinvolves direct and/or indirect restorations. Contemporarytreatment modalities comprising of adhesive restorativetechniques, overdentures, fixed partial dentures, fullporcelain crowns, porcelain fused-to metal crownsand inlay/onlay restorations have been reported inliterature(10-18).

Full porcelain restorations are becoming increasinglypopular, because of their improved esthetics, excellentbiocompatibility and improved physical properties.

Autosomal Recessive Rough Hypoplastic Type-1Amelogenesis ImperfectaShahbaz U / Quadir F / Hasein T

Fig no 10 Post operative view (occlusal)

Fig no 11 Postoperative frontal view

Fig no 12 Lips at rest showing a natural appearance ofrestored dentition

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The recent advances in dentin bonding haverevolutionized the field of esthetic dentistry. Thepractitioners can now predictably restore the functionand esthetics to quite a satisfactory level(10,17,18). However,the main disadvantages of laminate veneers have beenidentified as marginal adaptation and bonding problems(16).

In the present case, full- metal restorations onposterior first molars were preferred to redouble themechanical durability, recover strength and protect theresidual dentin. The porcelain laminate veneers wereour first option to improve the esthetic outcome, butwere refused by our patient due to financial constraints.Patient reported her comfort with the restorative treatmenton her followup visits.

CONCULSION

In conclusion, AI is a severe disorder affecting thepatient's quality of life with relation to their oral healthand may have serious psychological impact on them.From this point of view, people with AI need extensivetreatment. While planning the treatment, several factorsmust be taken into account like patient's age, theiraffordability, pattern and the nature of AI. Moreover,although rare, some dental anomalies may accompanythe AI cases. In these cases, multidisciplinary approachis important for treatment success. In the present case,the patient tolerated the use of partial denture andrestorations well at routine follow ups.

REFERENCES

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Autosomal Recessive Rough Hypoplastic Type-1Amelogenesis ImperfectaShahbaz U / Quadir F / Hasein T