Neurofibromatosis Type I with a Rare Mandibular Malformation: a Case Report
DOI:
https://doi.org/10.21270/archi.v14i12.6699Keywords:
Neurofibromatoses, Neurofibroma, Palate, Mandible, AtrophyAbstract
Neurofibromatosis type I (NF1) is an inherited autosomal dominant disorder caused by heterogeneous mutations in the NF1 gene. Clinical manifestations may include multiple neurofibromas, café-au-lait macules, Lisch nodules, axillary freckling, and distinctive bone lesions. This study reports a rare case of NF1 with mandibular malformation. A 36-year-old female patient with NF1 presented with a persistent 10-year swelling of the hard palate. Physical examination revealed mild right facial asymmetry, cutaneous nodules on the neck, trunk, and feet, along with café-au-lait spots. A sessile, fibroelastic nodule was observed on the hard palate, extending from teeth #11 to #13, leading to a primary diagnosis of neurofibroma. Panoramic radiography demonstrated extensive deformity of the right mandibular body, angle, and ramus, enlargement of the mandibular notch, impacted right teeth, and widening of the left mandibular canal. Excisional biopsy confirmed the lesion as a plexiform neurofibroma. The patient remains under clinical follow-up. Mandibular bone dysplasia represents a rare finding strongly associated with plexiform neurofibromas, often presenting as gradual destruction of the mandibular body and ramus. Genetic factors appear to play a significant role, with secondary NF1 mutations in osteoprogenitor cells potentially impairing bone repair mechanisms. This rare osseous dysplasia may complicate diagnosis, necessitating dentist-surgeons’ awareness of such manifestations to avoid unnecessary diagnostic procedures.
Downloads
References
1. Peduto C, Zanobio M, Nigro V, Perrotta S, Piluso G, Santoro C. Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations. Cancers (Basel). 2023;15(4):1217.
2. Lee TJ, Chopra M, Kim RH, Parkin PC, Barnett‑Tapia C. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023;18(1):292.
3. Roman Souza G, Abdalla A, Mahadevan D. Clinical trials targeting neurofibromatoses-associated tumors: a systematic review. Neurooncol Adv. 2022;4(1):vdac005.
4. Buchholzer S, Verdeja R, Lombardi T. Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions. Dermatopathology (Basel). 2021;8(1):17–24.
5. Garrido MB, Jagtap R, Matesi CD, Diaz V, Hardeman J, Gohel A. Central giant-cell granuloma in a patient with neurofibromatosis type 1: 7 years of follow-up. J Korean Assoc Oral Maxillofac Surg. 2024;50(1):49–55.
6. Couto DAF, Ito FA, Lima HG, Ono E, Pires WR, Pereira-Stabile CL, Vitti Stabile GA, Takahama A Jr. Asymptomatic unilateral facial swelling in 10-year-old boy. J Am Dent Assoc. 2023;154(9):843–8.
7. Herzog M, Zanella F, Feaux de Lacroix W. Zur Neurofibromatose des Kiefer-Gesichtsbereiches. Fortschr Kiefer-Gesichtschir. 1986;31:152–3.
8. 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.
9. Friedrich RE, Scheuer HA. Unilateral Creeping Destruction of Deformed Mandibular Ramus and Angle Associated with Extensive Facial Plexiform Neurofibroma in Neurofibromatosis Type 1: A Case Report with Analysis of the Literature for Diagnosing Osteolytic Events of the Mandible in Tumor-suppressor Gene Syndrome. Anticancer Res. 2018;38(7):4083–91.
10. Rittersma J, ten Kate LP, Westerink P. Neurofibromatosis with mandibular deformities. Oral Surg Oral Med Oral Pathol. 1972;33(5):718–27.
11. Tahaei SE, Couasnay G, Ma Y, Paria N, Gu J, Lemoine BF, Wang X, Rios JJ, Elefteriou F. The reduced osteogenic potential of Nf1-deficient osteoprogenitors is EGFR-independent. Bone. 2018;106:103–11.
