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ORIGINAL ARTICLE
Year : 2019  |  Volume : 22  |  Issue : 8  |  Page : 1157-1162

A long-term clinical study on individuals with amelogenesis imperfecta


Department of Pediatric Dentistry, Faculty of Dentistry, Suleyman Demirel University, Isparta, Turkey

Date of Acceptance17-Jul-2018
Date of Web Publication14-Aug-2019

Correspondence Address:
Dr. D Ceyhan
Department of Pediatric Dentistry, Faculty of Dentistry, Suleyman Demirel University, Isparta
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njcp.njcp_227_18

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   Abstract 


Background: The aims of this study are to present sociodemographic and familial characteristics, clinical and systemic findings, dental treatment needs, and concomitant dental anomalies in patients with amelogenesis imperfecta (AI) and to evaluate time-varying conditions in these long-term follow-up patients. Materials and Methods: Records of patients with AI who were examined in the Department of Pediatric Dentistry between 1999 and 2017 were reviewed. Information about sociodemographic characteristics, history of AI and consanguinity in family, systemic conditions, reasons for referral to the clinic, oral hygiene habits and gingival health, occlusion findings, and performed treatments were gathered. Dental anomalies in radiographs were also evaluated. Baseline and final situations of the patients were assessed. Statistical analyses were performed. Results: Of 75 patients aged 3–15 years with follow-ups up to 12 years, 34 had AI in their families and 15 were born from consanguineous marriages. Nephrocalcinosis has been observed in 5 patients. Main reasons for referral to the clinic were related to esthetic and hypersensitivity concerns. Twenty-two patients had gingivitis, and during follow-up process, gingival problems could not be completely prevented due to poor oral hygiene habits. Vertical dimension loss, open-bite, and cross-bite were seen in 16, 15, and 10 patients, respectively. Of the patients, 63% experienced restorative, 33% stainless steel crown, 17% endodontic, 8% prosthetic treatments, and 24% had retreatment needs. Concomitant dental anomalies were dens invaginatus, taurodontism, ectopic eruption, delayed eruption, hypodontia, and pulpal calcification. Conclusion: Early diagnosis and interventions considering the time-varying conditions with long-term follow-ups provide significant improvements in clinical maintenance of patients with AI.

Keywords: Amelogenesis imperfecta, children, follow-up, health, prognosis


How to cite this article:
Ceyhan D, Kirzioglu Z, Emek T. A long-term clinical study on individuals with amelogenesis imperfecta. Niger J Clin Pract 2019;22:1157-62

How to cite this URL:
Ceyhan D, Kirzioglu Z, Emek T. A long-term clinical study on individuals with amelogenesis imperfecta. Niger J Clin Pract [serial online] 2019 [cited 2019 Aug 24];22:1157-62. Available from: http://www.njcponline.com/text.asp?2019/22/8/1157/264407




   Introduction Top


Amelogenesis imperfecta (AI) is a rare condition with genetic transmission, which affects the enamel structure, quantity, and composition of primary and permanent teeth.[1] Its prevalence has been enounced to vary between 1/718 and 1/14,000 depending on the study population.[2] It has been reported that this condition has autosomal dominant, autosomal recessive, or rarely, X chromosome-linked inheritance patterns [3] and that it may also be transmitted by consanguineous marriages.[4],[5] On the other hand, different researchers have reported that AI may develop when a mutation occurs in genes.[6],[7],[8] The diagnosis of AI can be established by anamnesis followed by clinical and radiographic evaluations and genetic analyses.

It has been represented that some additional dental anomalies may develop in patients with AI.[9],[10],[11] Hypersensitivity is a common complaint in teeth due to the structure of enamel. The goals of treatment, with a multidisciplinary approach, are to provide esthetics and function and to avoid vertical dimension loss and hypersensitivity. Early diagnosis and the follow-up of the patients after the treatment process allow for timely intervention of the emerging needs. In accordance with these data, different approaches to conventional dental treatments came up, but no standard procedure has been established for a successful treatment due to the lack of long-term follow-ups.

The aims of this study are to present sociodemographic and familial characteristics, clinical and systemic findings, dental treatment needs, and concomitant dental anomalies in patients with AI and to evaluate time-varying conditions in these long-term follow-up patients.


   Materials and Methods Top


The present study was approved by the Clinical Research Ethics Committee of the Medical School of Suleyman Demirel University (Approval No. 14.02.2018/18). The records of patients who were resident in the western Mediterranean region, examined in the Department of Pediatric Dentistry, Faculty of Dentistry of Suleyman Demirel University between the years of 1999 and 2017, clinically/radiologically diagnosed with AI, and who had informed consent were reviewed. Patients with incomplete records and no standardized and clear radiographs were excluded from the study.

We gathered information about sociodemographic characteristics, history of AI or similar defects in other members of the family, status and degree of consanguinity between parents, systemic conditions, and reasons for referral to the clinic, oral hygiene habits and gingival health, occlusion findings, and the performed treatments from the records of 75 patients and recorded those into prepared forms. Dental anomalies in radiographs were also added to these forms. Baseline and final situations of the patients were assessed, and the changes that occurred during this period were specified and recorded in the forms.

Descriptive statistics were applied on data, and possible relations were evaluated with Pearson's Chi-square test of independence and t-test (SPSS for Windows, version 23.0; IBM SPSS Inc., Chicago, IL, USA).


   Results Top


It was learned that of 75 patients (41 males and 34 females) aged between 3 and 15 years (mean 9.67 ± 0.38 years) with follow-up periods up to 12 years, 34 patients had a similar condition in their relatives and 15 patients were born to consanguineous marriage patterns. In all of the consanguineous marriages, the parents were cousins and the socioeconomic levels were low according to the “Statistical Institute, Income Distribution and Living Conditions Statistics.”[12] Among 34 patients, dental discolorations were found on the maternal side of 15 patients, on the paternal side of 13 patients, on both maternal and paternal sides in 7 patients, and in siblings of 22 patients. Although there was no dental discoloration on maternal or paternal side in 11 patients, their siblings were found to have dental discolorations. According to the Witkop's classification,[1] hypoplastic [Figure 1], hypomatured [Figure 2], and hypocalcified [Figure 3] forms of AI were in 17, 3, and 12 patients, respectively, and other patients had hypoplastic/hypomatured AI with taurodontism form. Five patients had the preliminary diagnosis of nephrocalcinosis.
Figure 1: Hypoplastic type amelogenesis imperfecta

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Figure 2: Hypomatured type amelogenesis imperfecta

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Figure 3: Hypocalcified type amelogenesis imperfecta

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The reasons for referral to our clinic were considered; more than half of the patients wanted the dental discolorations to be corrected and to smile more comfortably. In addition, there were expectations such as reduction of hypersensitivity and pain, correction of speech, and being able to eat more comfortably. There was an increase in dental esthetic concerns as the age increases.

Gingivitis and gingival hyperplasia were observed in 22 and 8 patients, respectively, and in the follow-up period, it was observed that these gingival problems could not be completely prevented in any of the patients [Figure 4]. The Pearson's Chi-square test of independence has determined that the frequency of referral to the clinic was not independent of oral hygiene status (P < 0.05), and oral hygiene was found to be better for patients who regularly attended to appointments and whose follow-ups continued for a long time. The Pearson's Chi-square test of independence showed that poor oral hygiene was not independent of gingival diseases (P < 0.05). The incidence of gingival diseases was increasing unless oral hygiene was provided.
Figure 4: Gingivitis and gingival hyperplasia due to poor oral hygiene in patient with amelogenesis imperfecta

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The evaluation of occlusion status of the patients is presented in [Table 1]. There were open-bite, cross-bite, deep-bite, and vertical dimension loss in a total of 15, 10, 2, and 16 patients, respectively. Stainless steel crowns performed in order to prevent vertical dimension loss in 86 teeth (14 primary molar teeth and 72 permanent first molar teeth) of 25 patients in total were found to be accomplished their mission and successfully used in the follow-up process.
Table 1: The evaluation of occlusion status of the patients

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Evaluation of treatment distributions of patients with AI showed that 63% experienced restorative treatment, 33% were treated with stainless steel crowns, 17% experienced endodontic treatment, 8% experienced prosthetic treatment, and 24% had the need for retreatment. It was seen that almost half of the patients had completed 18 years of age and became eligible candidates for prosthetic treatments and these treatments had been completed in 6 patients.

No dental anomaly was detected in the primary teeth of patients with AI. Of the patients, 65% had dens invaginatus, 57% had taurodontism, 45% had ectopic eruption, 37% had delayed eruption, and 31% had hypodontia, mostly third molar agenesis, in the permanent teeth [Figure 5]. The delayed tooth eruption was encountered, especially in patients with gingival hyperplasia and/or ectopic eruption. Eleven patients were found to have pulpal calcification. The mean age was 11 and 9 years in the patients with and without pulpal calcification, respectively, and the difference between two means was found to be significant according to the t-test (P < 0.05). There was nephrocalcinosis in two of the patients with pulpal calcification. According to the Pearson's Chi-square test of independence, the delayed eruption of permanent teeth was not independent of ectopic eruption (P < 0.05).
Figure 5: Some of concomitant dental anomalies (dens invaginatus and ectopic and delayed eruption) in patient with amelogenesis imperfecta

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   Discussion Top


AI is a condition that negatively affects the esthetic appearance, speech and therefore quality of life in children. Although clinical and radiographic diagnostic methods are frequently used, it is reported that definitive diagnosis can be made with genetic tests because of the lack of objective diagnostic criteria.[9],[13] It has been shown that AI can develop as a result of consanguineous marriages,[4] and that similar enamel defects can be found in families of patients with AI.[9] Wright et al.[13] reported, in their study including 71 families with AI patients, that individuals from the same family have similar genetic mutations. In our study, although the diagnoses were based on clinical and radiographic findings, the fact that 20% of the patients were born to consanguineous marriage patterns suggests that genetic transmission plays an important role in the occurrence of AI. In addition, the greater incidence of this condition on maternal side among all relatives suggests that maternal inheritance may play an important role.

Clinical diagnosis of AI is also important to prevent some diseases. It has been reported that AI-related nephrocalcinosis is characterized by an increase in the amount of calcium in the kidneys and can result in very serious consequences if left untreated.[14] In our study, 5 patients had the preliminary diagnosis of nephrocalcinosis. It has been presented that CNNM4 gene mutation may lead to AI and defective enamel formation during enamel maturation phase, as well as to cone dystrophy, an inherited retinal dystrophy.[15] Therefore, although genetic testing is important in the diagnosis of AI, the use of clinical and radiographic diagnostic methods provides important information and makes it possible to observe and guide the patients for other diseases.

It was observed that patients were referred to our clinic particularly due to esthetic concerns and hypersensitivity complaints caused by defective enamel structure. Researchers have shown that increased tooth hypersensitivity and esthetic concerns constitute the main reasons for referral to the clinics.[10] These problems may arise as a result of loss of enamel structure, roughness of the tooth surface, and discolorations. In our study, eating and speech were adversely affected by hypersensitivity problems. Patients need the treatments because of these problems and also due to the increase in the importance of appearance on account of getting closer to the puberty period.

In this study, gingivitis was observed to be exacerbated in the majority of the patients despite oral hygiene trainings because of the poor oral care and additional factors such as reluctance to brush the teeth due to hypersensitivity, mouth breathing, and puberty period. It was noticed that this situation raised new caries and the need for retreatment. Inadequate oral hygiene motivations in contrast to the dental esthetic concerns of the patients were associated with the low level of education and poor economic status. However, it was observed that gingivitis improved in patients who followed oral hygiene recommendations and were regularly present at post-treatment follow-ups. Poulsen et al.[10] also reported that patients with AI had predominantly gingivitis and gingival enlargement. Patients with AI should be supported and controlled by clinicians to ensure their oral hygiene.

The patients with AI have some skeletal problems as well as enamel and dentin problems. Arkutu et al.[11] stated that many patients with AI had skeletal anterior open-bite and this was due to a genetic anomaly affecting craniofacial development. In our study, 15 patients were identified to have open-bite and these patients were referred to the related clinic and treated in the early period. Vertical dimension loss is also remarkable in patients with AI. Treatments such as overdenture prostheses, crowns, stainless steel crowns, and onlay restorations are recommended to manage the occlusion of the patients.[16] Stainless steel crowns were used in our study to prevent vertical dimension loss and to manage occlusion. Aren et al.,[17] in their study, found that the most common accompanying dental anomalies in patients with AI were delayed tooth eruption and open-bite, and in contrast to our study, dens invaginatus was very rare. Koruyucu et al.[18] stated that taurodontism was seen in only 1 of the 31 patients with AI and that there was no hypodontia and delayed tooth eruption. We thought that these variations between studies might originate from methodological differences, genotypic, phenotypic, and ethnic differences of evaluated populations, and geographical conditions. Studies have shown that dental anomalies which often coexist together may have the same hereditary properties, may be developed as a result of the same genetic mutations, and may be useful in analyzing the genetic basis of anomalies.[19],[20] On the other hand, our study provides more specific information as it addresses an AI population living in the western Mediterranean region, whose income level is low and where consanguineous marriages are common.

The etiology of pulpal calcification, another form of the dental anomalies, has been listed as chronic irritation, profound caries, restorations, and wears, and it has been explained to be associated with the self-repairing effort of the irritated pulp and a delayed response to pulpal inflammation.[21],[22] In our study, chronic pulpal irritation may have occurred due to the defective structures of enamel and dentin, and thus, pulpal calcification may have developed. Dellow et al.[5] have suggested that albumin and osteopontin may cause calcification defects by affecting the calcium metabolism in the kidneys and teeth. Paula et al.[4] have reported that pulpal calcification and eruption anomalies may result from genetic mutation of tooth cells other than ameloblasts. The CNNM4 gene mutation which is thought to be associated with AI and plays a role in the transport of calcium ions and the localized accumulation of deposits may have also caused pulpal calcification. In our study, 11 patients had pulpal calcification and 2 of these patients had a preliminary diagnosis of nephrocalcinosis. Patients with pulpal calcification should be thought to have nephrocalcinosis over time and these patients should be kept under follow-up. It should be elucidated whether there is a similarity, in terms of the formation of calcified areas, between the mechanisms of pulpal calcifications and systemic calcifications such as nephrocalcinosis.

Early intervention is very important in the treatment of patients with AI. It has been reported that the delayed treatment can lead to a rapid wear of the enamel and that hypermineralization of surface dentin in patients with AI [23] causes a high degree of resistance to acids, which adversely affects the penetration of adhesive resins and gives rise to a weak hybrid layer and a low bonding strength.[11],[24] These conditions also reduce clinical success of the treatments. In our study, the problems reported by the researchers were mostly not encountered by means of the early interventions. The treatments for the maintenance of the vertical dimension were started to be administered in the primary dentition period. In the period of mixed and permanent dentition, treatments aimed at preserving vertical dimensions and existing restorations and preventing caries progression were continued. Prosthetic treatments were performed to meet the esthetic needs in the later ages. Due to the structure of the teeth, the existing caries did not progress excessively and the need for retreatment appeared after about 2 years, and this was correlated with poor or inadequate oral hygiene of the patients and an increased number of defective surfaces of the teeth.


   Conclusion Top


Our results showed that consanguineous marriages and maternal inheritance play an important role in the occurrence of AI. Clinical diagnosis of AI makes it possible to observe and guide the patients for other diseases such as nephrocalcinosis and other concomitant dental anomalies such as dens invaginatus, taurodontism, ectopic eruption, delayed eruption, hypodontia, and pulpal calcification. Oral health status and dental esthetic needs of the patients vary over time. Early diagnosis and interventions considering the time-varying conditions with regular and long-term follow-ups provide significant improvements in clinical maintenance of the patients with AI.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification. J Oral Pathol 1988;17:547-53.  Back to cited text no. 1
    
2.
Rajendran R. Developmental disturbances of oral and paraoral structures. In: Rajendran R, Sivapathasundharam B, editors. Shafer's Textbook of Oral Pathology. 7th ed. New Delhi: Elsevier; 2012. p. 50.  Back to cited text no. 2
    
3.
Bailleul-Forestier I, Molla M, Verloes A, Berdal A. The genetic basis of inherited anomalies of the teeth. Part 1: Clinical and molecular aspects of non-syndromic dental disorders. Eur J Med Genet 2008;51:273-91.  Back to cited text no. 3
    
4.
Paula LM, Melo NS, Silva Guerra EN, Mestrinho DH, Acevedo AC. Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. Arch Oral Biol 2005;50:237-42.  Back to cited text no. 4
    
5.
Dellow EL, Harley KE, Unwin RJ, Wrong O, Winter GB, Parkins BJ, et al. Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. Nephrol Dial Transplant 1998;13:3193-6.  Back to cited text no. 5
    
6.
Santos MC, Line SR. The genetics of amelogenesis imperfecta: A review of the literature. J Appl Oral Sci 2005;13:212-7.  Back to cited text no. 6
    
7.
Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, et al. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Am J Hum Genet 2008;82:489-94.  Back to cited text no. 7
    
8.
Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M, et al. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A 2005;133A: 138-41.  Back to cited text no. 8
    
9.
Markovic D, Petrovic B, Peric T. Case series: Clinical findings and oral rehabilitation of patients with amelogenesis imperfecta. Eur Arch Paediatr Dent 2010;11:201-8.  Back to cited text no. 9
    
10.
Poulsen S, Gjørup H, Haubek D, Haukali G, Hintze H, Løvschall H, et al. Amelogenesis imperfecta – A systematic literature review of associated dental and oro-facial abnormalities and their impact on patients. Acta Odontol Scand 2008;66:193-9.  Back to cited text no. 10
    
11.
Arkutu N, Gadhia K, McDonald S, Malik K, Currie L. Amelogenesis imperfecta: The orthodontic perspective. Br Dent J 2012;212:485-9.  Back to cited text no. 11
    
12.
Turkish Statistical Institute, Income Distribution and Living Conditions Statistics. Available from: http://www.tuik.gov.tr/PreTablo.do?alt_id=1011. [Last accessed on 2018 Mar 02].  Back to cited text no. 12
    
13.
Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, et al. Amelogenesis imperfecta: Genotype-phenotype studies in 71 families. Cells Tissues Organs 2011;194:279-83.  Back to cited text no. 13
    
14.
Kirzioglu Z, Ulu KG, Sezer MT, Yüksel S. The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome. Med Oral Patol Oral Cir Bucal 2009;14:e579-82.  Back to cited text no. 14
    
15.
Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, et al. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet 2009;84:259-65.  Back to cited text no. 15
    
16.
Patel M, McDonnell ST, Iram S, Chan MF. Amelogenesis imperfecta – Lifelong management. Restorative management of the adult patient. Br Dent J 2013;215:449-57.  Back to cited text no. 16
    
17.
Aren G, Ozdemir D, Firatli S, Uygur C, Sepet E, Firatli E, et al. Evaluation of oral and systemic manifestations in an amelogenesis imperfecta population. J Dent 2003;31:585-91.  Back to cited text no. 17
    
18.
Koruyucu M, Bayram M, Tuna EB, Gencay K, Seymen F. Clinical findings and long-term managements of patients with amelogenesis imperfecta. Eur J Dent 2014;8:546-52.  Back to cited text no. 18
  [Full text]  
19.
Thesleff I. Genetic basis of tooth development and dental defects. Acta Odontol Scand 2000;58:191-4.  Back to cited text no. 19
    
20.
Kirzioglu Z, Ceyhan D, Coban BG. An assessment of the association of taurodontism with various dental anomalies, syndromes, systemic diseases and/or genetic diseases, and its role in identification. Aust J Forensic Sci 2018;50:482-92.  Back to cited text no. 20
    
21.
Smith AJ, Lumley PJ, Tomson PL, Cooper PR. Dental regeneration and materials: A partnership. Clin Oral Investig 2008;12:103-8.  Back to cited text no. 21
    
22.
Sener S, Cobankara FK, Akgünlü F. Calcifications of the pulp chamber: Prevalence and implicated factors. Clin Oral Investig 2009;13:209-15.  Back to cited text no. 22
    
23.
Sánchez-Quevedo MC, Ceballos G, García JM, Luna JD, Rodríguez IA, Campos A, et al. Dentine structure and mineralization in hypocalcified amelogenesis imperfecta: A quantitative X-ray histochemical study. Oral Dis 2004;10:94-8.  Back to cited text no. 23
    
24.
Van Meerbeek B, Braem M, Lambrechts P, Vanherle G. Morphological characterization of the interface between resin and sclerotic dentine. J Dent 1994;22:141-6.  Back to cited text no. 24
    


    Figures

  [Figure 1], [Figure 2], [Figure 4], [Figure 3], [Figure 5]
 
 
    Tables

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