Plexiform Neurofibroma of the Greater Palatine Nerve as an Early Oral Manifestation of Neurofibromatosis Type 1: A case report

Dilara Nur Şengün; Öykü Öztürk Gündoğdu; Ömer Can Manav; Ömer Faruk Kocamaz

doi:10.7126/cumudj.1777293

EN TR

Plexiform Neurofibroma of the Greater Palatine Nerve as an Early Oral Manifestation of Neurofibromatosis Type 1: A case report

Abstract

Neurofibromatosis type 1 (NF1) is a multisystemic autosomal dominant disorder with highly variable clinical expression, including both cutaneous and oral manifestations. Oral neurofibromas are rare and frequently underrecognized features that may result in diagnostic delays. We report the case of a male patient in his 30s, presenting with a dwarf-like appearance and scoliosis, who was referred due to a long-standing, asymptomatic palatal swelling associated with repeated dental implant failures. Clinical examination revealed a soft-tissue mass encasing the greater palatine nerve, which was surgically excised. Histopathological analysis confirmed the diagnosis of diffuse plexiform neurofibroma, while genetic testing identified a c.75_76del (p.Gly26fs) NF1 mutation. This case highlights the need for clinicians to consider NF1 in the differential diagnosis of persistent intraoral swellings and underscores the potential role of rare oral manifestations as early indicators of systemic disease. Moreover, the successful use of a dermal collagen matrix for secondary wound healing following excision demonstrates a valuable reconstructive option for soft-tissue management in similar cases. Early recognition of oral lesions in NF1 not only facilitates appropriate diagnosis and genetic counseling but also contributes to the prevention of treatment complications, such as repeated implant failure, thereby improving patient outcomes.

Keywords

Nörofibromatozis Tip 1’in Erken Oral Bulgusu Olarak Büyük Palatin Sinir Pleksiform Nörofibromu: Olgu Sunumu

Abstract

Nörofibromatozis tip 1 (NF1), değişken klinik özellikler gösterebilen multisistemik, otozomal dominant bir hastalıktır ve hem kutanöz hem de oral bulguları içerebilir. Oral nörofibromlar nadir görülen ve sıklıkla gözden kaçan bulgular olup tanıda gecikmelere yol açabilmektedir. Bu olgu sunumunda, cüce benzeri görünüm ve skolyoz ile başvuran, 30’lu yaşlarında bir erkek hastada uzun süredir mevcut, asemptomatik palatal şişliğe bağlı olarak tekrarlayan dental implant başarısızlıkları tanımlanmıştır. Klinik incelemede büyük palatin siniri saran yumuşak doku kitlesi eksize edilmiştir. Histopatolojik inceleme difüz pleksiform nörofibroma tanısını doğrulamış, genetik analizde ise c.75_76del (p.Gly26fs) NF1 mutasyonu saptanmıştır. Bu olgu, persistan intraoral şişliklerin ayırıcı tanısında NF1’in göz önünde bulundurulması gerektiğini vurgulamakta ve cerrahi eksizyon sonrası yumuşak doku iyileşmesinde dermal kollajen matriks kullanımının değerli bir rekonstrüktif seçenek olduğunu göstermektedir. NF1’de oral lezyonların erken tanınması, yalnızca doğru tanı ve genetik danışmanlığı kolaylaştırmakla kalmaz, aynı zamanda tekrarlayan implant başarısızlıkları gibi tedaviye bağlı komplikasyonların

Keywords

References

1. Javed F, Ramalingam S, Ahmed HB, Al-Kheraif AA, Mikami T, Kellesarian SV, et al. Oral manifestations in patients with neurofibromatosis type-1: a comprehensive literature review. Crit Rev Oncol Hematol 2014;91(2):123–129.
2. Gerber P, Antal AS, Biedermann T, Braegelmann C, Meissner M, Müller CS. Neurofibromatosis Eur J Med Res 2009;14(3):102–105.
3. Tadini G, Milani D, Menni F, Sabatini C, Esposito S. Is it time to change the neurofibromatosis 1 diagnostic criteria?. Eur J Intern Med 2014;25(6):506–510.
4. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278(1):51–7.
5. Kissil JL, Watson AL, Shen R, Dryja TP, Ratner N. What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. Am J Med Genet A 2010;152(2):269–283.
6. Brems H, Beert E, de Ravel T, Legius E. Mechanisms in the pathogenesis of malignant tumors in neurofibromatosis type 1. Lancet Oncol 2009;10(5):508–15.
7. Helfferich J, Nijmeijer R, Brouwer OF, van den Berg SR, van Lindert EJ, Kros JM, et al. Neurofibromatosis type 1 associated low grade gliomas: a comparison with sporadic low grade gliomas Crit Rev Oncol Hematol 2016;104:30–41.
8. Jouhilahti E-M, Peltonen S, Heape AM, Peltonen J. The pathoetiology of neurofibromatosis 1. Am J Pathol 2011;178(5):1932–1939.

9. Suramya S, Kumar V, Arora SS, Goyal N. Solitary plexiform neurofibroma of the gingiva: unique presentation in the oral cavity. J Clin Diagn Res 2013;7(9):2090.
10. McClatchey AI. Neurofibromatosis. Annu Rev Pathol 2007;2:191–216.
11. Rodriguez FJ, Stratakis CA, Evans DG. Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes. Acta Neuropathol 2012;123:349–367.
12. Ly KI, Blakeley JO. The diagnosis and management of neurofibromatosis type 1. Med Clin North Am 2019;103(6):1035–1054.
13. National Institutes of Health. NIH Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md, USA, July 13–15, 1987. Neurofibromatosis 1988;1(3):172-178.
14. Shapiro SD, Abramovitch K, Levin LS. Neurofibromatosis: oral and radiographic manifestations. Oral Surg Oral Med Oral Pathol 1984;58(4):493–498.
15. Geist JR, Gander DL, Stefanac SJ. Oral manifestations of neurofibromatosis types I and II. Oral Surg Oral Med Oral Pathol 1992;73(3):376–382.
16. Cherifi H, Kallel A, Dridi M, Baccouche A, Zribi W, Khabir A, et al. Oral manifestations of neurofibromatosis type 1. J Cosmet Dermatol Sci Appl 2019;9(1):41–55.
17. Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers 2017;3(1):17004.
18. Friedman JM. Neurofibromatosis 1. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
19. Tonsgard JH. Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol 2006;13(1):2–7.
20. Ozarslan B, Karadag AS, Bilgili SG, Calka O, Altun F, Karaduman A. Cutaneous findings in neurofibromatosis type 1. Cancers (Basel) 2021;13(3):463.
21. Visnapuu V, Peltonen S, Tuppurainen M, Peltonen J. Craniofacial and oral alterations in patients with neurofibromatosis 1. Orphanet J Rare Dis 2018;13:1–9.
22. Friedrich RE, Giese M, Schmelzle R, Mautner VF, 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.
23. Magro G, Cavallaro V, Torrisi A, Ieni A, Di Vita M. Practical approach to histological diagnosis of peripheral nerve sheath tumors: an update. Diagnostics (Basel) 2022;12(6):1463.
24. Lin GH, Chan HL, Wang HL. The significance of keratinized mucosa on implant health. J Periodontol 2013;84(12):1755–1767.
25. Korf BR. Neurofibromatosis. Handb Clin Neurol. 2013;111:333–340.
26. Ghanaati S, Barbeck M, Willershausen I, Thiem D, Müller A, Kniha H, et al. Evaluation of the tissue reaction to a new bilayered collagen matrix in vivo and its translation to the clinic. Biomed Mater 2011;6(1):015010.
27. Sanz M, Lorenzo R, Aranda JJ, Martin C, Orsini M. Clinical evaluation of a new collagen matrix (Mucograft® prototype) to enhance the width of keratinized tissue in patients with fixed prosthetic restorations: a randomized prospective clinical trial. J Clin Periodontol 2009;36(10):868–876.

Details

Primary Language

English

Subjects

Oral and Maxillofacial Surgery, Oral Medicine and Pathology

Journal Section

Case Report

Authors

Dilara Nur Şengün
0000-0002-6452-1580
Türkiye

Öykü Öztürk Gündoğdu
0000-0002-9970-1506
Türkiye

Ömer Can Manav
0000-0002-1688-8484
Türkiye

Ömer Faruk Kocamaz ^*
0009-0002-0681-0648
Türkiye

Publication Date

July 1, 2026

Submission Date

September 3, 2025

Acceptance Date

May 3, 2026

Published in Issue

Year 2026 Volume: 29 Number: 2

DOI

https://doi.org/10.7126/cumudj.1777293

IZ

https://izlik.org/JA79EL23WK

Cite

RIS / Bibtex

APA

Şengün, D. N., Öztürk Gündoğdu, Ö., Manav, Ö. C., & Kocamaz, Ö. F. (2026). Plexiform Neurofibroma of the Greater Palatine Nerve as an Early Oral Manifestation of Neurofibromatosis Type 1: A case report. Cumhuriyet Dental Journal, 29(2), 378-384. https://doi.org/10.7126/cumudj.1777293

AMA

1.Şengün DN, Öztürk Gündoğdu Ö, Manav ÖC, Kocamaz ÖF. Plexiform Neurofibroma of the Greater Palatine Nerve as an Early Oral Manifestation of Neurofibromatosis Type 1: A case report. Cumhuriyet Dent J. 2026;29(2):378-384. doi:10.7126/cumudj.1777293

Chicago

Şengün, Dilara Nur, Öykü Öztürk Gündoğdu, Ömer Can Manav, and Ömer Faruk Kocamaz. 2026. “Plexiform Neurofibroma of the Greater Palatine Nerve As an Early Oral Manifestation of Neurofibromatosis Type 1: A Case Report”. Cumhuriyet Dental Journal 29 (2): 378-84. https://doi.org/10.7126/cumudj.1777293.

EndNote

Şengün DN, Öztürk Gündoğdu Ö, Manav ÖC, Kocamaz ÖF (July 1, 2026) Plexiform Neurofibroma of the Greater Palatine Nerve as an Early Oral Manifestation of Neurofibromatosis Type 1: A case report. Cumhuriyet Dental Journal 29 2 378–384.

IEEE

[1]D. N. Şengün, Ö. Öztürk Gündoğdu, Ö. C. Manav, and Ö. F. Kocamaz, “Plexiform Neurofibroma of the Greater Palatine Nerve as an Early Oral Manifestation of Neurofibromatosis Type 1: A case report”, Cumhuriyet Dent J, vol. 29, no. 2, pp. 378–384, July 2026, doi: 10.7126/cumudj.1777293.

ISNAD

Şengün, Dilara Nur - Öztürk Gündoğdu, Öykü - Manav, Ömer Can - Kocamaz, Ömer Faruk. “Plexiform Neurofibroma of the Greater Palatine Nerve As an Early Oral Manifestation of Neurofibromatosis Type 1: A Case Report”. Cumhuriyet Dental Journal 29/2 (July 1, 2026): 378-384. https://doi.org/10.7126/cumudj.1777293.

JAMA

1.Şengün DN, Öztürk Gündoğdu Ö, Manav ÖC, Kocamaz ÖF. Plexiform Neurofibroma of the Greater Palatine Nerve as an Early Oral Manifestation of Neurofibromatosis Type 1: A case report. Cumhuriyet Dent J. 2026;29:378–384.

MLA

Şengün, Dilara Nur, et al. “Plexiform Neurofibroma of the Greater Palatine Nerve As an Early Oral Manifestation of Neurofibromatosis Type 1: A Case Report”. Cumhuriyet Dental Journal, vol. 29, no. 2, July 2026, pp. 378-84, doi:10.7126/cumudj.1777293.

Vancouver

1.Dilara Nur Şengün, Öykü Öztürk Gündoğdu, Ömer Can Manav, Ömer Faruk Kocamaz. Plexiform Neurofibroma of the Greater Palatine Nerve as an Early Oral Manifestation of Neurofibromatosis Type 1: A case report. Cumhuriyet Dent J. 2026 Jul. 1;29(2):378-84. doi:10.7126/cumudj.1777293