Dental and Medical Problems

Dent Med Probl
Index Copernicus (ICV 2020) – 128.41
MEiN – 70 pts
CiteScore (2021) – 2.0
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ISSN 1644-387X (print)
ISSN 2300-9020 (online)
Periodicity – quarterly

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Dental and Medical Problems

2013, vol. 50, nr 3, July-September, p. 349–354

Publication type: review article

Language: English

Primary Failure of Tooth Eruption – Etiology, Diagnosis and Treatment

Pierwotne zaburzenie wyrzynania zębów – etiologia, diagnostyka i leczenie

Jan Łyczek1,A,B,D,E,F, Joanna Antoszewska1,A,B,D,E,F

1 Chair and Department of Dentofacial Orthopedics and Orthodontics, Wroclaw Medical University, Wrocław, Poland

Abstract

Primary failure of eruption (PFE) is a rare condition that involves impeded eruption of teeth despite the lack of an identified local or general causative factor. Since molar teeth are mainly concerned, a typical clinical image presents extensive lateral open bite. A characteristic radiological feature depicts large radiolucent fields around embedded tooth germs. Research performed in recent years has provided evidence that a defect of the eruption mechanism on a genetic background is responsible for the disorder. The introduction of genetic testing has enabled definitive verification of diagnosis in suspected patients, although because of the high cost, it is not yet available for routine clinical application. Diagnosis of PFE may be difficult due to its rare occurrence and absence of clinically evident cause of eruption impediment in particular. Moreover, the conventional orthodontic-surgical methods employed for bringing unerupted teeth into the dental arch are futile in the case of PFE, since the application of orthodontic force to the involved tooth inevitably results in ankylosis with all its adverse consequences. Competent diagnosis of PFE enables early abandonment of orthodontic means doomed to failure and the introduction of only effective prosthetic and surgical solutions.

Streszczenie

Pierwotne zaburzenie wyrzynania zębów jest rzadką chorobą polegającą na zatrzymaniu erupcji zębów pomimo braku stwierdzonych przyczyn miejscowych i ogólnych. Zaburzenie dotyczy przede wszystkim zębów trzonowych, stąd typowy obraz kliniczny przedstawia zgryz otwarty częściowy boczny, charakterystyczną cechą radiologiczną jest natomiast obecność rozległych przejaśnień otaczających zawiązki zębów zatrzymanych. Badania przeprowadzone w ciągu ostatnich lat wykazały, że przyczyną zaburzenia jest defekt mechanizmu erupcyjnego zęba powstały na tle genetycznym. Wprowadzenie badań genetycznych umożliwiło ostateczną weryfikację wstępnej diagnozy u osób podejrzanych o posiadanie zaburzenia, z powodu znacznych kosztów nie są one jednak dostępne do rutynowego zastosowania klinicznego. Ze względu na rzadkość występowania, a zwłaszcza brak klinicznie ewidentnych przyczyn zatrzymanego wyrzynania zębów PFE stwarza duże trudności diagnostyczne. Konwencjonalne chirurgicznoortodontyczne metody stosowane w celu wprowadzania do łuku zębów zatrzymanych są ponadto w przypadku PFE nieskuteczne, ponieważ przyłożenie siły ortodontycznej do zęba dotkniętego zaburzeniem niezawodnie skutkuje jego ankylozą ze wszystkimi negatywnymi konsekwencjami. Umiejętnie przeprowadzona diagnostyka umożliwia wczesne odstąpienie od skazanych na niepowodzenie metod ortodontycznych i zastosowanie jedynych skutecznych rozwiązań protetycznych i chirurgicznych.

Key words

primary failure of eruption, genetics, etiology, diagnosis, treatment

Słowa kluczowe

pierwotne zaburzenie wyrzynania, genetyka, etiologia, diagnostyka, leczenie

References (45)

  1. Massler M., Schour I.: Studies in tooth development: theories of eruption. Am. J. Orthodont. Oral Surg. 1941, 27, 552–576.
  2. Raghoebar G.M., Boering G., Vissink A., Stegenga B.: Eruption disturbances of permanent molars: a review. J. Oral Pathol. Med. 1991, 20, 159–166.
  3. Di Biase D.D.: The effects of variations in tooth morphology and position on eruption. Dent. Pract. Dent. Rec. 1971, 22, 95–108.
  4. Arvystas M.G.: Familial generalized delayed eruption of the dentition with short stature. Oral Surg. Oral Med. Oral. Path. 1976, 41, 235–243.
  5. Gorlin R.J., Goltz R.W.: Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome. N. Engl. J. Med. 1960, 262, 908–912.
  6. Luzzi V., Consoli G., Daryanani V., Santoro G., Sfasciotti G.L., Polimeni A.: Malignant infantile osteopetrosis: dental effects in paediatric patients. Case reports. Eur. J. Pediatr. Dent. 2006, 7, 39–44.
  7. Tipton R.E., Gorlin R.J.: Growth retardation, alopecia, pseudo-anodontia, and optic atrophy – the GAPO syndrome: report of a patient and review of the literature. Am. J. Med. Genet. 1984, 19, 209–216.
  8. Proffit W.R., Vig K.W.: Primary failure of eruption: a possible cause of posterior open-bite. Am. J. Orthod. 1981, 80, 173–190.
  9. Cahill D.R., Marks S.C. Jr.: Tooth eruption: evidence for the central role of the dental follicle. J. Oral. Pathol. Med. 1980, 9, 189–200.
  10. Wise G.E., Lin F., Fan W.: Localization of epidermal growth factor and its receptor in mandibular molars of the rat prior to and during prefunctional tooth eruption. Dev. Dyn. 1992, 195, 121–126.
  11. Thesleff I., Partanen A., Rihtniemi L.: Localization of epidermal growth factor receptors in mouse incisors and human premolars during eruption. Eur. J. Orthod. 1987, 9, 24–32.
  12. Wise G.E., Lin F., Zhao L.: Transcription and translation of CSF-1 in the dental follicle. J. Dent. Res. 1995, 74, 1551–1557.
  13. Kong Y.Y., Yoshida H., Sarosi I., Tan H.L., Timms E., Capparelli C., Morony S., Oliveira-dos-Santos A.J., Van G., Itie A., Khoo W., Wakeham A., Dunstan C.R., Lacey D.L., Mak T.W., Boyle W.J., Penninger J.M.: OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis. Nature 1999, 397, 315–323.
  14. Nakchbandi I.A., Weir E.E., Insogna K.L., Philbrick W.M., Broadus A.E.: Parathyroid hormone-related protein induces spontaneous osteoclast formation via a paracrine cascade. Proc. Natl. Acad. Sci. USA 2000, 97, 7296–7300.
  15. D’Souza R.N., Aberg T., Gaikwad J., Cavender A., Owen M., Karsenty G., Thesleff I.: Cbfa1 is required for epithelial-mesenchymal interactions regulating tooth development in mice. Develop. 1999, 126, 2911–2920.
  16. Wise G.E., Yao S.: Regional differences of expression of bone morphogenetic protein-2 and RANKL in the rat dental follicle. Eur. J. Oral. Sci. 2006, 114, 512–516.
  17. Mundlos S., Otto F., Mundlos C., Mulliken J.B., Aylsworth A.S., Albright S., Lindhout D., Cole W.G., Henn W., Knoll J.H.M., Owen M.J., Mertelsmann R., Zabel B.U., Olsen B.R.: Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997, 89, 773–779.
  18. Decker E., Stellzig-Eisenhauer A., Fiebig B.S., Rau C., Kress W., Saar K., Rüschendorf F., Hubner N., Grimm T., Weber B.H.: PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am. J. Hum. Genet. 2008, 83, 781–786.
  19. Stellzig-Eisenhauer A., Decker E., Meyer-Marcotty P., Rau C., Fiebig B.S., Kress W., Saar K., Rüschendorf F., Hubner N., Grimm T., Witt E., Weber B.H.: Primary failure of eruption (PFE) – clinical and molecular genetics analysis. J. Orofac. Orthop. 2010, 7, 6–16.
  20. Frazier-Bowers S.A., Simmons D., Wright J.T., Proffit W.R., Ackerman J.L.: Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning. Am. J. Orthod. Dentofacial. Orthop. 2010, 137, 160.e1–160.e7.
  21. Yamaguchi T., Hosomichi K., Narita A., Shirota T., Tomoyasu Y., Maki K., Inoue I.: Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. J. Bone. Miner. Res. 2011, 26, 1655–1661.
  22. Juppner H., Abou-Samra A.B., Freeman M., Kong X.F., Schipani E., Richards J., Kolakowski L.F. Jr., Hock J., Potts J.T. Jr., Kronenberg H.M., Segre G.V.: A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Science 1991, 254, 1024–1026.
  23. Philbrick W.M., Dreyer B.E., Nakchbandi I.A., Karaplis A.C.: Parathyroid hormone-related protein is required for tooth eruption. Proc. Natl. Acad. Sci. U S A. 1998, 29, 11846–11851.
  24. Shokeir M.H.K.: Complete failure of eruption of all permanent teeth: An autosomal dominant disorder, Clin. Genet. 1974, 5, 322–326.
  25. Dibiase A.T., Leggat T.G.: Primary failure of eruption in the permanent dentition of siblings. Int. J. Paediatr. Dent. 2000, 10, 153–157.
  26. Rasmussen P., Kotsaki A.: Inherited primary failure of eruption in the primary dentition: report of five cases. ASDC J. Dent. Child. 1997, 64, 43–47.
  27. Jobert A.S., Zhang P., Couvineau A., Bonaventure J., Roume J., Le Merrer M., Silve C.: Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J. Clin. Invest. 1998, 102, 34–40.
  28. Duchatelet S., Ostergaard E., Cortes D., Lemainque A., Julier C.: Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum. Molec. Genet. 2005, 14, 1–5.
  29. Schipani E., Kruse K., Juppner H.: A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995, 268, 98–100.
  30. Hopyan S., Gokgoz N., Poon R., Gensure R.C., Yu C., Cole W.G., Bell R.S., Juppner H., Andrulis I.L., Wunder J.S., Alman B.A.: A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genet. 2002, 30, 306–310.
  31. Frazier-Bowers S.A., Simmons D., Koehler K.E., Zhou J.: Genetic analysis of familial non-syndromic primary failure of eruption. Orthod. Craniofac. Res. 2009, 12, 74–81.
  32. Baccetti T.: Tooth anomalies associated with failure of eruption of eruption of first and second permanent molars. Am. J. Orthod. Dentofacial. Orthop. 2000, 118, 608–610.
  33. Rhoads G.C., Hendricks H.M., Frazier-Bowers S.A.: Establishing the diagnostic criteria for eruption disorders based on genetic and clinical data. Am. J. Orthod. Dentofacial. Orthop. 2013, 144, 194–202.
  34. Frazier-Bowers S.A., Koehler K.E., Ackerman J.L., Proffit W.R.: Primary failure of eruption: further characterization of a rare eruption disorder. Am. J. Orthod. Dentofacial. Orthop. 2007, 131, 578–584.
  35. Ahmad S., Bister D., Cobourne M.T.: The clinical features and aetiological basis of primary eruption failure. Eur. J. Orthod. 2006, 28, 535–540.
  36. O’Connell A.C., Torske K.R.: Primary failure of tooth eruption: a unique case. Oral. Surg. Oral. Med. Oral. Pathol. Oral. Radiol. Endod. 1999, 87, 714–720.
  37. Rasmussen P., Kotsaki A.: Inherited retarded eruption in the permanent dentition. J. Clin. Pediatr. Dent. 1997, 21, 205–211.
  38. Raghoebar G.M., Boering G., Vissink A.: Clinical, radiographic and histological characteristics of secondary retention of permanent molars. J. Dent. 1991, 19, 164–170.
  39. Mattheeuws N., Dermaut L., Martens G.: 2004 Has hypodontia increased in Caucasians during the 20th century? A meta-analysis. Eur. J. Orthod. 2004, 26, 99–103.
  40. Shaw L., Foster T.D.: Size and development of the dentition in endocrine deficiency. J. Pedod. 1989, 13, 155–60.
  41. Mussig D., Hickel R., Zschiesche S.: The eruption of decidious teeth in children with various forms of Down’s syndrome and congenital heart defects. Deut. Zahnarzt. 1990, 45, 157–159.
  42. Kaloust S., Ishii K., Vargervik K.: Dental development in Apert syndrome. Cleft Palate Craniofac. J. 1997, 34, 117–121.
  43. Siegel S.C., O’Connell A.: Oral rehabilitation of a child with primary failure of tooth eruption. J. Prosthodont 1999, 8, 201–207.
  44. Piattelli A., Eleuterio A.: Primary failure of eruption. Acta Stomatol. Belg. 1991, 88, 127–130.
  45. Kater W.M., Kawa D., Schafer D., Toll D.: Treatment of posterior open bite using distraction osteogenesis. J. Clin. Orthod. 2004, 38, 501–504.