Amelogenesis imperfecta

Amelogenesis imperfecta
Amelogenesis imperfecta, hypoplastic type. Note the association of pitted enamel and open bite.
SpecialtyDentistry Edit this on Wikidata

Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the enamel[1] or external layer of the crown of teeth, unrelated to any systemic or generalized conditions.[2] Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel (ameloblastin, enamelin, tuftelin and amelogenin) as a result of abnormal enamel formation via amelogenesis.[3]

People with amelogenesis imperfecta may have teeth with abnormal color: yellow, brown or grey; this disorder can affect any number of teeth of both dentitions. Enamel hypoplasia manifests in a variety of ways depending on the type of AI an individual has (see below), with pitting and plane-form defects common.[4] The teeth have a higher risk for dental cavities and are hypersensitive to temperature changes as well as rapid attrition, excessive calculus deposition, and gingival hyperplasia.[5] The earliest known case of AI is in an extinct hominid species called Paranthropus robustus, with over a third of individuals displaying this condition.[6]

  1. ^ Slootweg PJ (2007). Dental pathology: a practical introduction. Springer Science & Business Media. pp. 19–. ISBN 978-3-540-71690-7. Retrieved 28 December 2010.
  2. ^ Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y (November 2002). "Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary". Journal of Dental Research. 81 (11): 738–42. doi:10.1177/154405910208101103. PMID 12407086.
  3. ^ Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ (August 2016). "Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta". Human Molecular Genetics. 25 (16): 3578–3587. doi:10.1093/hmg/ddw203. PMC 5179951. PMID 27412008.
  4. ^ Crawford PJ, Aldred M, Bloch-Zupan A (April 2007). "Amelogenesis imperfecta". Orphanet Journal of Rare Diseases. 2 (1): 17. doi:10.1186/1750-1172-2-17. PMC 1853073. PMID 17408482.
  5. ^ American Academy of Pediatric Dentistry, Guideline on Dental Management of Heritable Dental Developmental Anomalies, 2013, http://www.aapd.org/media/Policies_Guidelines/G_OHCHeritable.pdf
  6. ^ Towle, Ian; Irish, Joel D. (2019). "A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus" (PDF). Journal of Human Evolution. 129: 54–61. Bibcode:2019JHumE.129...54T. doi:10.1016/j.jhevol.2019.01.002. PMID 30904040. S2CID 85502058.