A Sublingual Neurofibroma: A Case Report

Year 2019, , 109 - 114, 30.12.2019

Ahmet Altan , Aras Erdil , Nihat Akbulut

https://doi.org/10.35333/ERD.2019.103

Abstract

Neurofibromatosis is a genetically inherited, autosomal dominant disorder. Deletions or mutations on chromosomes 17 and 22 precipitate to neurofibromatosis and there are genetically two types of the it as Type 1 and Type 2. Neurofibromatosis Type 1 is relevant with the abnormalities on chromosome 17.

In the affected population, the incidence of oral manifestation is as high as 92%, and the tongue is the most common involved site. Due to the lack of neurofibromin, which is encoded by the NF1 gene located on chromosome 17 and acts as a tumor suppressor protein, neurofibromas are frequently diagnosed on the tongue as
nodular growths or diffuse macroglossia in the oral cavity.

In this case report we aim to present our approach of treatment with intent to meet patient’s preprosthetic demands by performing an incisional biopsy on a sublingual neurofibroma and review the current literature in terms of diagnostic criteria, clinical features, accompanying impairments and treatment modalities.

Keywords

sublingual, neurofibroma

References

• 1. Ba MR, Caltabiano R, Polizzi A. Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond : First descriptions , medical curiosities , misconceptions , landmarks , and the persons behind the syndromes. 2018;(June 2017):515-550. doi:10.1002/ajmg.a.38486
• 2. Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278(1):51-57.
• 3. MacCollin M, Chiocca EA, Evans DG, et al. Diagnostic criteria for schwannomatosis. Neurology. 2005;64(11):1838-1845. doi:10.1212/01.WNL.0000163982.78900.AD
• 4. Patel NB, Stacy GS. Musculoskeletal manifestations of neurofibromatosis type 1. AJR Am J Roentgenol. 2012;199(1):W99-106. doi:10.2214/AJR.11.7811
• 5. D’Ambrosio JA, Langlais RP, Young RS. Jaw and skull changes in neurofibromatosis. Oral Surgery, Oral Med Oral Pathol. 1988;66(3):391-396. doi:10.1016/0030-4220(88)90252-6
• 6. Bekisz O, Darimont F, Rompen EH. Diffuse but unilateral gingival enlargement associated with von Recklinghausen neurofibromatosis: a case report. J Clin Periodontol. 2000;27(5):361-365.
• 7. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6(4):340-351. doi:10.1016/S1474-4422(07)70075-3
• 8. DeBella K, Szudek J, Friedman JM. Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3):608-614. doi:10.1542/peds.105.3.608
• 9. Vincent SD, Williams TP. Mandibular abnormalities in neurofibromatosis. Case report and literature review. Oral Surg Oral Med Oral Pathol. 1983;55(3):253-258.
• 10. Oliveira MG De, Moure SP. NF1 diagnosis criteria and associated sarcomatous tumor review of the literature and case report. 2008:231-235. doi:10.1007/s10006-008-0137-1
• 11. Shapiro SD, Abramovitch K, Van Dis ML, et al. Neurofibromatosis: oral and radiographic manifestations. Oral Surg Oral Med Oral Pathol. 1984;58(4):493-498. http://www.ncbi.nlm.nih.gov/pubmed/6436765. Accessed February 4, 2019.
• 12. van Damme PA, Mooren RE. Differentiation of multiple giant cell lesions, Noonan-like syndrome, and (occult) hyperparathyroidism. Case report and review of the literature. Int J Oral Maxillofac Surg. 1994;23(1):32-36.
• 13. Cao H, Klein NAOD, Goodwin AF. A review of craniofacial and dental findings of the RASopathies. 2017;20(February):32-38. doi:10.1111/ocr.12144
• 14. Trovo-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet. 2006;70(1):1-13. doi:10.1111/j.1399-0004.2006.00639.x
• 15. Bollag G, Clapp DW, Shih S, et al. Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nat Genet. 1996;12(2):144-148. doi:10.1038/ng0296-144
• 16. Leskela H-V, Kuorilehto T, Risteli J, et al. Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. Bone. 2009;44(2):243-250. doi:10.1016/j.bone.2008.10.050
• 17. Ghalayani P, Saberi Z, Sardari F. Neurofibromatosis type I ( von Recklinghausen ’ s disease ): A family case report and literature review. 2012;9(4):483-488.
• 18. Kuorilehto T, Poyhonen M, Bloigu R, Heikkinen J, Vaananen K, Peltonen J. Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body. Osteoporos Int. 2005;16(8):928-936. doi:10.1007/s00198-004-1801-4
• 19. Baden E, Jones JR, Khedekar R, Burns WA. Neurofibromatosis of the tongue: a light and electronmicroscopic study with review of the literature from 1849 to 1981. J Oral Med. 1984;39(3):157-164.
• 20. Bongiorno MR, Pistone G, Arico M. Manifestations of the tongue in Neurofibromatosis type 1. Oral Dis. 2006;12(2):125-129. doi:10.1111/j.1601-0825.2005.01168.x
• 21. Zoller ME, Rembeck B, Oden A, Samuelsson M, Angervall L. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer. 1997;79(11):2125-2131.
• 22. Sailer, H. F., Kunzler, A., Makek, M. S. (1988). Neurofibrohämangiomatöse Weichteilveränderungen mit pathognomonischer Unterkieferdeformität. Fortschr Kief Gesichts Chirurgie, 33, 84-86.
• 23. Lorson EL, DeLong PE, Osbon DB, Dolan KD. Neurofibromatosis with central neurofibroma of the mandible: review of the literature and report of case. J Oral Surg. 1977;35(9):733-738.
• 24. Kaplan I, Calderon S, Kaffe I. Radiological findings in jaws and skull of neurofibromatosis type 1 patients. Dentomaxillofac Radiol. 1994;23(4):216-220. doi:10.1259/dmfr.23.4.7835527
• 25. Visnapuu V, Peltonen S, Alivuotila L, Happonen R, Peltonen J. Craniofacial and oral alterations in patients with Neurofibromatosis 1. 2018:1-9.
• 26. Javed F, Ramalingam S, Bashir H, et al. Oral manifestations in patients with neurofibromatosis type-1 : A comprehensive literature review. Crit Rev Oncol / Hematol. 2014;91(2):123-129. doi:10.1016/j.critrevonc.2014.02.007
• 27. Friedrich RE, Giese M, Schmelzle R, Mautner V-F, Scheuer HA. Jaw malformations plus displacement and numerical aberrations of teeth in neurofibromatosis type 1: a descriptive analysis of 48 patients based on panoramic radiographs and oral findings. J Craniomaxillofac Surg. 2003;31(1):1-9.
• 28. Visnapuu V, Peltonen S, Ellila T. Periapical cemental dysplasia is common in women with NF1. 2007;50:274-280. doi:10.1016/j.ejmg.2007.04.001
• 29. Friedrich RE, Reul A. Periapical Cemento-osseous Dysplasia Is Rarely Diagnosed on Orthopantomograms of Patients with Neurofibromatosis Type 1 and Is Not a Gender-specific Feature of the Disease. Anticancer Res. 2018;38(4):2277-2284. doi:10.21873/anticanres.12472
• 30. Epstein JB, Schubert MM, Hatcher DC. Multiple neurofibromatosis: Report of a case. Oral Surgery, Oral Med Oral Pathol. 1983;56(5):560-562.