Amelogenesis imperfecta with multiple impacted teeth and altered eruption pathways - A radiographic case report

Authors

DOI:

https://doi.org/10.17159/2519-0105/2020/v75no5a5

Keywords:

Amelogenesis imperfecta, impactions, altered eruption pathways, gubernacular canals

Abstract

Amelogenesis imperfecta (AI) comprises a vast group of developmental alterations in the quantity and/or quality of enamel, unaffected by systemic disorders. In this case report we describe the typical clinical and radiographic features of AI with multiple impacted teeth and altered eruption pathways. Patients with AI benefit from early diagnosis and treatment to prevent tooth loss and loss of vertical dimension. Optimal management of these patients requires a multidisciplinary approach and regular dental recall appointments. Therefore it is the oral health clinician’s responsibility for the timeous identification of this condition.

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References

Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, et al. Amelogenesis Imperfecta; Genes, Proteins, and Pathways. Front Physiol. 2017; 8: 1-22.

Kim YJ, Kim YJ, Kang J, Shin TJ, Hyun HK, Lee SH, et al. A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. Arch Oral Biol. 2017; 76: 61-5.

Lu T, Li M, Xu X, Xiong J, Huang C, Zhang X, et al. Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders. Int J Oral Sci. 2018; 10(3): 26. Available from: http://dx.doi.org/10.1038/s41368-018-0027-9.

Nowwarote N, Theerapanon T, Osathanon T, Pavasant P, Porntaveetus T, Shotelersuk V. Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells. Oral Dis. 2018; 24(8): 1522-31.

Xin W, Wenjun W, Man Q, Yuming Z. Novel FAM83H mutations in patients with amelogenesis imperfecta. Sci Rep. 2017; 7(1): 1-9. Available from: http://dx.doi.org/10.1038/s41598-017-05208-0.

Koruyucu M, Kang J, Kim YJ, Seymen F, Kasimoglu Y, Lee ZH, et al. Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations. J Dent Res. 2018; 97(9): 1064- 9.

Brookes SJ, Barron MJ, Smith CEL, Poulter JA, Mighell AJ, Inglehearn CF, et al. Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. Hum Mol Genet. 2017; 26(10): 1863-76.

Seymen F, Kim YJ, Lee Y, Al E. Recessive mutations in testicular acid phosphatase (ACPT) cause hypoplastic amelogenesis imperfecta. Am J Hum Genet. 2016; 99: 1199-205.

Smith CEL, Whitehouse LLE, Poulter JA, Brookes SJ, Day PF, Soldani F, et al. Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. Eur J Hum Genet. 2017; 25(8): 10159. Available from: http://dx.doi.org/10.1038/ejhg.2017.79

Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, et al. Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet. 2019; 95(3): 375 -83.

Hytönen MK, Arumilli M, Sarkiala E, Nieminen P, Lohi H. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet. 2019; 138(5): 525-33. Available from: http://dx.doi.org/10.1007/s00439-019-01997-8

Kim YJ, Seymen F, Koruyucu M, Kasimoglu Y, Gencay K, Shin TJ, et al. Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta. Oral Dis. 2016; 22(4): 297-302.

Dourado MR, dos Santos CRR, Dumitriu S, Iancu D, Albanyan S, Kleta R, et al. Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. Eur J Med Genet. 2018; (October): 1-7. Available from: https://doi.org/10.1016/j.ejmg.2018.10.013

Koruyucu M, Seymen F, Gencay G, Gencay K, Tuna EB, Shin TJ, et al. Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. Nephron. 2018; 139(2): 189- 96.

Cobourne MT, Sharpe PT. Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition. WIREs Dev Biol. 2013; 2: 183- 212.

Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1988; 17: 547-53.

Sabandal MMI, Schäfer E. Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. Odontology. 2016; 104: 245-56.

Prasad MK, Laouina S, El Alloussi M, Dollfus H, Bloch-Zupan A. Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. J Dent Res. 2016; 95(13): 1457-63.

Reddy SS, Aarthi NV, Harish BN. Hypoplastic amelogenesis imperfecta with multiple impacted teeth - report of two cases. J Clin Exp Dent. 2010; 2(4): 207- 2011.

Aldred MJ, Savarirayan R, Crawford PJ. Amelogenesis Imperfecta-A classification and catalogue for the 21st century. Oral Dis. 2003; 9: 19-23.

Pekkan G, Pekkan K, Hatipoglu M, Tuna S. Comparative radiopacity of ceramics and metals with human and bovine dental tissues. J Prosthet Dent. 2011; 106: 109 -17.

Adorno-Farias D, Ortega-Pinto A, Gajardo P, Salazar A, Morales-Bozo I, Werlinger F, et al. Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta. J Appl Oral Sci. 2019; 27(0): 1-11.

Collins MA, Mauriello SM, Tyndall TA, Wright JT. Dental anomalies associated with Amelogenesis imperfecta - A radiographic assessment. Oral Surg Oral Med, Oral Pathol Oral Endol Radiol. 1999; 88: 358-64.

O’Connell S, Davies J, Smallridge J, Vaidyanathan M. Amelogenesis imperfecta associated with dental follicular-like hamartomas and generalised gingival enlargement. Eur Arch Paediatr Dent. 2014; 15: 361- 8.

Nanci A. Ten Cate’s Oral Histology: Development, Structure and Function. 9th ed. Elsevier, editor. St. Louis, Missouri; 2018.

Wise GE. Cellular and molecular basis of tooth eruption. Orthod Craniofac Res. 2009; 12(2): 67-73.

Wise GE, Frazier-Bowers S, D’Souza RN. Cellular, molecular, and genetic determinants of tooth eruption. Crit Rev Oral Biol. 2002; 13(4): 323 - 34.

Hodson J. The gubernaculum dentis. Dent Pract. 1971; 21(12): 423-8.

NagihanKoc HD, BernaCagirankaya L, SemaDural, van der Stelt PF. CBCT assessment of gubernacular canals in relation to eruption disturbance and pathologic condition associated with impacted/unerupted teeth. Oral Surg Oral Med Oral Pathol Oral Radiol. 2019; 127(2): 175 - 84.

Ferreira DCA, Fumes, Ana Caroline Consolaro A, Nelson-Filho P, Mussolino de Queiroz A, De Rossi A. Gubernacular cord and canal - does these anatomical structures play a role in dental eruption? RSBO. 2013; 10(2167-71).

Consolaro A. Orthodontic traction: possible consequences for maxillary canines and adjacent teeth. Dent Press J Orthod. 2010; 15(4): 15 - 23.

Scott J. The development and function of the dental follicle. Br Dent J. 1948; 85(9): 193 - 9.

Dos Santos Moreira F, De Almeida LY, De Oliveira Santos C, Motta ACF, Martínez Martínez M, Machado RA. Gubernacular Cord and Canal. Oral Surg Oral Med Oral Pathol Oral Radiol. 2015; 120(2): e80.

Nishida I, Oda M, Tanaka T, Kito S, Al E. Detection and imaging characteristics of the gubernacular tract in children on cone beam and multidetector computed tomography. Oral Maxillofac Radiol. 2015; 120(2): 109 -17.

Proffit WR, Vig KW. Primary Failure of eruption: A possible cause for posterior open bite. Am J Orthod. 1981; 80(2): 173-90.

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.

Yaprak E, Subaşı MG, Avunduk M, Aykent F. Amelogenesis Imperfecta and Generalized Gingival Overgrowth Resembling Hereditary Gingival Fibromatosis in Siblings: A Case Report. Case Rep Dent. 2012; 2012: 1–6.

Van Heerden, W Raubenheimer EJ, Dreyer A, Benn A. Amelogenesis imperfecta: multiple impactions associated with odontogenic fibromas (WHO) type. JDASA. 1990; 45: 467-71.

Peters E, Cohen M, Altini M. Rough hypoplastic amelogenesis imperfecta with follicular hyperplasia. Oral Surg Oral Med Oral Pathol. 1992; 74: 87-92.

Raubenheimer E, Noffke C. Central odontogenic fibroma-like tumors, hypodontia, and enamel dysplasia: review of the literature and report of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002; 94(74-7).

Paula L, Melo N, Silva Guerra E, Mestrinho D, Acevedo A. Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. Arch Oral Biol. 2005; 50: 237-42.

Feller L, Jadwat Y, Bouckaert M, Buskin A, Raubenheimer E. Enamel dysplasia with odontogenic fibroma-like hamartomas: review of the literature and report of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006; 101: 620 - 4.

Martelli-Junior H, Bonan P, Dos Santos L, Al E. Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. J Periodontol. 2008; 79: 12870-96.

Roquebert D, A C, Gil del Real P, Al. E. Amelogenesis imperfecta, rough hypoplastic type, dental follicular hamartomas and gingival hyperplasia: report of a case from Central America and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008; 106: 92- 8.

El-Naggar A, Chan J, Rubin Grandis J, Takata T, Slootweg P. WHO classification of head and neck tumours. 4th ed. Cancer IA for R on, editor. Lyon; 2017. 228-9.

O’Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, et al. Whole-exome sequencing identifies FAM-20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet. 2011; 88(5): 616- 20.

Sabatini C, GuzmÁn-Armstrong S. A conservative treatment for amelogenesis imperfecta with direct resin composite restorations: A case report. J Esthet Restor Dent. 2009; 21(3): 161-70.

Strauch S, Hahnel S. Restorative Treatment in Patients with Amelogenesis Imperfecta: A Review. J Prosthodont. 2018; 27(7): 618 -23.

de La Dure–Molla M, Ifi-Naulin C, Fournier BP, Berdal A, Toupenay S, Manière M-C. Amelogenesis imperfecta: therapeutic strategy from primary to permanent dentition across case reports. BMC Oral Health. 2018; 1-8.

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Published

2020-06-30

How to Cite

Amelogenesis imperfecta with multiple impacted teeth and altered eruption pathways - A radiographic case report. (2020). South African Dental Journal, 75(5), 262-266. https://doi.org/10.17159/2519-0105/2020/v75no5a5