Cited by 64Genetic and rare skin diseases.dental development and anomaliesCleft Lip and Palate Research

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Dental and oral anomalies in incontinentia pigmenti: a systematic review

Minić, Snežana, Trpinac, Dušan, Gabriel, Heinz, Gencik, Martin, Obradović, Miljana·2013·Clinical Oral Investigations

Abstract

Objectives Incontinentia pigmenti (IP) is an X-linked genodermatosis caused by a mutation of the IKBKG gene. The objective of this study was to present a systematic review of the dental and oral types of anomalies, to determine the total number and sex distribution of the anomalies, and to analyze possible therapies. Materials and methods We analyzed the literature data from 1,286 IP cases from the period 1993-2010. Results Dental and/or oral anomalies were diagnosed for 54.38% of the investigated IP patients. Most of the anomaly types were dental, and the most frequent of these were dental shape anomalies, hypodontia, and delayed dentition. The most frequent oral anomaly types were cleft palate and high arched palate. IKBKG exon 4-10 deletion was present in 86.36% of genetically confirmed IP patients. Conclusions According to the frequency, dental and/or oral anomalies represent the most frequent and important IP minor criteria. The most frequent mutation was IKBKG exon 4-10 deletion. The majority of dental anomalies and some of the oral anomalies could be corrected. Clinical relevance Because of the presence of cleft palate and high arched palate in IP patients, these two anomalies may be considered as diagnostic IP minor criteria as well.

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  • Dental and oral anomalies like delayed dentition, pegged or conical teeth, anodontia or hypodontia, and cleft or high-arched palate occur in almost all patients with incontinentia pigmenti.

    “Dental and oral anomalies like delayed dentition, pegged or conical teeth, anodontia or hypodontia, and cleft or high-arched palate occur in almost all patients.[32]”

    From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [32]

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Research works printed but not linked: 38

  1. Berlin A, Paller AS, Chan LS (2002) Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 47:169–187. doi: 10.1067/mjd.2002.125949 · DOI
  2. Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D’Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL (2000) Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405:466–472. doi: 10.1038/35013114 · DOI
  3. Courtois G, Gilmore TD (2006) Mutations in the NF-κB signaling pathway: implication for human disease. Oncogene 25:6831–6843. doi: 10.1038/sj.onc.1209939 · DOI
  4. Orange JS, Levy O, Geha RS (2005) Human disease resulting from gene mutations that interfere with appropriate nuclear factor-κB activation. Immunol Rev 203:21–37. doi: 10.1111/j.0105-2896.2005.00221.x · DOI
  5. Scheuerle A, Ursini MV. Incontinentia pigmenti (Bloch–Sulzberger syndrome). University of Washington, Seattle (WA): GeneReviews 2008 Feb, 22 pp. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=i-p . Accessed 28 Oct 2010
  6. Fusco F, Paciolla M, Napolitano F, Pescatore A, D’Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV (2012) Genomic architecture at the incontinentia pigmenti locus favours de novo pathological alleles through different mechanisms. Hum Mol Genet 1:1260–1271. doi: 10.1093/hmg/ddr556 · DOI
  7. Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D’Urso M, Ursini MV (2004) Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation. Hum Mol Genet 13:1763–1773. doi: 10.1093/hmg/ddh192 · DOI
  8. Landy SJ, Donnai D (1993) Incontinentia pigmenti (Bloch–Sulzberger syndrome). J Med Genet 30:53–59 · DOI · Paper page
  9. Garcia-Dorado J, de Unamuno P, Fernandez-Lopez E, Salazar Veloz J, Armijo M (1990) Incontinentia pigmenti: XXY male with a family history. Clin Genet 38:128–138 · DOI
  10. Hadj-Rabia S, Rimella A, Smahi A, Fraitag S, Hamel-Teillac D, Bonnefont JP, de Prost Y, Bodemer C (2011) Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations. J Am Acad Dermatol 64:508–515. doi: 10.1016/j.jaad.2010.01.045 · DOI · Paper page
  11. Garrod AE (1906) Peculiar pigmentation of the skin of an infant. Trans Clin Soc London 39:216
  12. Carney RG (1976) Incontinentia pigmenti: a world statistical analysis. Arch Dermatol 112:535–542 · DOI
  13. Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL (1996) Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2. Hum Mol Genet 5:1777–1783. doi: 10.1093/hmg/5.11.1777 · DOI
  14. Minić S, Novotny GEK, Trpinac D, Obradović M (2006) Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities. Clin Oral Invest 10:343–347. doi: 10.1007/s00784-006-0066-z · DOI
  15. Phan TA, Wargon O, Turner AM (2005) Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin Exp Dermatol 30:474–480. doi: 10.1111/j.1365-2230.2005.01848.x · DOI
  16. Holmström G, Bergendal B, Hallberg G, Marcus S, Hallén A, Dahl N (2002) Incontinentia pigmenti—a rare disease with many symptoms. Lakartidningen 99:1345–1350
  17. Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C (2003) Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 139:1163–1170 · DOI
  18. Sachs L (1984) Applied statistics, 2nd edn. Springer, New York · DOI
  19. Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday VA (2001) Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet 99:172–177. doi:10.1002/1096-8628(2001) 9999:9999<::AID-AJMG1155>3.0.CO;2-Y · DOI
  20. Dupuis-Girod S, Corradini N, Hadj-Rabia S, Fournet JC, Faivre L, Le Deist F, Durand P, Döffinger R, Smahi A, Israël A, Courtois G, Brousse N, Blanche S, Munnich A, Fischer A, Casanova JL, Bodemer C (2002) Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 109:e97. doi: 10.1542/peds.109.6.e97 · DOI
  21. Rola M, Martins T, Melo MJ, Gomes R, Roseira J, Souto A (2004) Incontinence of pigment. An Pediatr (Barc) 60:601–602 · DOI
  22. Zou CC, Zhao ZY (2007) Clinical and molecular analysis of NF-κB essential modulator in Chinese incontinentia pigmenti patients. Int J Dermatol 46:1017–1022. doi: 10.1111/j.1365-4632.2007.03365.x · DOI
  23. Yonezu T, Hayashi Y, Sasaki J, Machida Y (1997) Prevalence of congenital dental anomalies of the deciduous dentition in Japanese children. Bull Tokyo Dent Coll 38:27–32
  24. Polder BJ, Van’t Hof MA, Van der Linden FPGM, Kuijpers-Jagtman AM (2004) A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol 32:217–226. doi: 10.1111/j.1600-0528.2004.00158.x · DOI
  25. Himelhoch DA, Scott BJ, Olsen RA (1987) Dental defects in incontinentia pigmenti: case report. Pediatr Dent 9:236–239
  26. Macey-Dare LV, Goodman JR (1999) Incontinentia pigmenti: seven cases with dental manifestations. Int J Paediatr Dent 9:293–297 · DOI
  27. Bentolila R, Rivera H, Sanchez-Quevedo MC (2006) Incontinentia pigmenti: a case report. Pediatr Dent 28:54–57
  28. Psoter WJ, Zhang H, Pendrys DG, Morse DE, Mayne ST (2003) Classification of dental caries patterns in the primary dentition: a multidimensional scaling analysis. Community Dent Oral Epidemiol 31:231–238. doi: 10.1034/j.1600-0528.2003.00044.x · DOI
  29. Wang X, Shaffer JR, Weyant RJ, Cuenco KT, DeSensi RS, Crout R, McNeil DW, Marazita ML (2010) Genes and their effects on dental caries may differ between primary and permanent dentitions. Caries Res 44:277–284. doi: 10.1159/000314676 · DOI
  30. Kurczynski TW, Berns JS, Johnson WE (1982) Studies of a family with incontinentia pigmenti variably expressed in both sexes. J Med Genet 19:447–451 · DOI
  31. Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC (2009) Cleft lip and palate. Lancet 374:1773–1785. doi: 10.1016/S0140-6736(09)60695-4 · DOI
  32. Minić S, Obradović M, Kovačević I, Trpinac D (2010) Ocular anomalies in Incontinentia pigmenti—literature review and meta-analysis. Srp Arh Celok Lek 138:408–413. doi: 10.2298/SARH1008408M · DOI
  33. Thesleff I (2006) The genetic basis of tooth development and dental defects. Am J Med Genet A 140A:2530–2535. doi: 10.1002/ajmg.a.31360 · DOI
  34. Kouskoura T, Fragou N, Alexiou M, John N, Sommer L, Graf D, Katsaros C, Mitsiadis TA (2011) The genetic basis of craniofacial and dental abnormalities. Schweiz Monatsschr Zahnmed 121:636–646
  35. Jacobsen P (2008) Restorative dentistry. An integrative approach, 2nd edn. Wiley-Blackwell, Oxford
  36. Jensen JL, Album B (2011) Tooth transplantation in cherubism and incontinentia pigmenti: report of two unusual cases. Oral Surg 4:39–43. doi: 10.1111/j.1752-248X.2010.01105.x · DOI
  37. Ciminello FS, Morin RJ, Nguyen TJ, Wolfe SA (2009) Cleft lip and palate: review. Compr Ther 35:37–43
  38. Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N (2005) A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Hum Genet 118:458–465. doi: 10.1007/s00439-005-0068-y · DOI

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Metadata

Authors
Minić, S., Trpinac, D., Gabriel, H., Gencik, M., & Obradović, M.
Affiliations
University of Belgrade (RS)
Corresponding author
Minić, Snežana
Venue
Clinical Oral Investigations
Published
2012-03-28
Volume
17
Issue
1
Pages
1-8
ISSN
  • 1432-6981 (ISSN-L)
  • 1436-3771
OpenAlex
W2116728509
Cited by
64
References
0
Citations by year
2026: 3 · 2025: 2 · 2024: 5 · 2023: 3 · 2022: 6 · 2021: 3 · 2020: 2 · 2019: 3 · 2018: 4 · 2017: 9 · 2016: 4 · 2015: 9 · 2014: 6 · 2013: 4
FWCI
0.74
Type
journal article
Language
en
Open access
closed
Locations
  • Clinical Oral Investigations (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
  • Health Sciences › Dentistry › General Dentistry › dental development and anomalies
  • Health Sciences › Dentistry › Oral Surgery › Cleft Lip and Palate Research
Keywords
incontinentia pigmenti, dental anomalies, oral anomalies, genodermatosis, tooth agenesis, cleft palate, high-arched palate, sex distribution
MeSH terms
Anodontia, Cleft Palate, Exons, Humans, Incontinentia Pigmenti, Mouth Abnormalities, Palate, Tooth Abnormalities, Tooth Eruption, Gene Deletion, I-kappa B Kinase

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