Display options
Cite
Arun KP, Thomas Joseph P, Jaishankar HP, et al. Von recklinghausens disease: a series of four cases with variable expression. J Maxillofac Oral Surg. 2013;14:161-7doi: 10.1007/s12663-012-0399-x.
Arun, K. P., Thomas Joseph, P., Jaishankar, H. P., & Abhinethra, M. S. (2015). Von recklinghausens disease: a series of four cases with variable expression. Journal of maxillofacial and oral surgery, 14161-7. https://doi.org/10.1007/s12663-012-0399-x
Arun, K P, et al. "Von recklinghausens disease: a series of four cases with variable expression." Journal of maxillofacial and oral surgery vol. 14 (2015): 161-7. doi: https://doi.org/10.1007/s12663-012-0399-x
Arun KP, Thomas Joseph P, Jaishankar HP, Abhinethra MS. Von recklinghausens disease: a series of four cases with variable expression. J Maxillofac Oral Surg. 2015 Mar;14:161-7. doi: 10.1007/s12663-012-0399-x. Epub 2013 Feb 07. PMID: 25838692; PMCID: PMC4379272.
Copy Download .nbib Format: NLM
Share it on

J Maxillofac Oral Surg. 2015 Mar;14:161-7. doi: 10.1007/s12663-012-0399-x. Epub 2013 Feb 07.

Von recklinghausens disease: a series of four cases with variable expression.

Journal of maxillofacial and oral surgery

K P Arun, P Thomas Joseph, H P Jaishankar, M S Abhinethra

Affiliations

  1. Department of Oral & Maxillofacial Surgery, Kannur Dental College, Anjarakandy, Kannur, Kerala India.
  2. Department of Oral & Maxillofacial Surgery, Coorg Institute of Dental Sciences, Virajpet, Coorg, Karnataka India.
  3. Department of Oral Medicine & Radiology, Coorg Institute of Dental Sciences, Virajpet, Coorg, Karnataka India.
  4. Department of Oral Medicine & Radiology, VS Dental College, Bangalore, Karnataka India.

PMID: 25838692 PMCID: PMC4379272 DOI: 10.1007/s12663-012-0399-x

Abstract

Though neurofibromatosis type I (NFI) is a fairly common condition, it has a variable expressivity and penetrance. Here we present a series of cases with striking differences in the presentation especially in the oral cavity. NFI, also known as von Recklinghausen's neurofibromatosis, is an autosomal dominantly inherited neurogenetic disorder affecting 1:3000 newborn (Bongiorno et al., Oral Dis 12:125-129, 2006). About 50 % of NFI patients have no family history of the disease. There is no prevalence for gender or race in NFI. Expressivity in NFI is tremendously variable, but subtle phenotypic patterns may exist within subgroups of affected patients. Furthermore, 50 % of cases are sporadic and arise from germ cell mutation (Bongiorno et al., Oral Dis 12:125-129, 2006). The precise constellation of findings in any one individual is extremely variable, both within a family and between different families (Batsakis, Tumors of the head and neck: clinical and pathological considerations, 2nd edn. Williams and Wilkins, Baltimore, pp 313-333, 1979). Only 4-7 % of patients affected by neurofibromatosis exhibit oral manifestations (Güneri et al., Turk J Pediatr 48(2):155-158, 2006).

Keywords: Auxillary freckling; Cafe au lait spots; Neurofibromatosis I; Von Recklinghausens disease

References

  1. Dentomaxillofac Radiol. 1994 Nov;23 (4):216-20 - PubMed
  2. Arch Neurol. 1998 Jun;55(6):778-80 - PubMed
  3. Am J Med Genet. 1997 May 16;70(2):138-43 - PubMed
  4. J Med Genet. 2002 May;39(5):311-4 - PubMed
  5. Neurology. 2006 Sep 26;67(6):E13 - PubMed
  6. Oral Dis. 2006 Mar;12(2):125-9 - PubMed
  7. Brain. 1999 Mar;122 ( Pt 3):473-81 - PubMed
  8. Ann Neurol. 1997 Feb;41(2):143-9 - PubMed
  9. J Neurol Neurosurg Psychiatry. 2000 Mar;68(3):353-7 - PubMed
  10. Turk J Pediatr. 2006 Apr-Jun;48(2):155-8 - PubMed
  11. Br Dent J. 2004 Apr 24;196(8):457-60 - PubMed
  12. Ann Intern Med. 2006 Jun 6;144(11):842-9 - PubMed
  13. J Oral Maxillofac Surg. 2001 Feb;59(2):232-5 - PubMed
  14. Am J Dis Child. 1989 Jun;143(6):717-9 - PubMed
  15. Am J Med Genet. 1999 Mar 26;89(1):31-7 - PubMed
  16. Yonsei Med J. 2002 Oct;43(5):678-80 - PubMed
  17. Cancer. 1986 May 15;57(10):2006-21 - PubMed
  18. Clin Radiol. 2005 Sep;60(9):960-7 - PubMed
  19. J Med Genet. 1996 Jan;33(1):2-17 - PubMed

Publication Types