Central giant-cell granuloma in a patient with neurofibromatosis type 1: 7 years of follow-up

• Published in: Journal of the Korean Association of Oral and Maxillofacial Surgeons Vol. 50; no. 1; pp. 49 - 55
• Main Authors: Garrido, Michelle Briner, Jagtap, Rohan, Matesi, Christopher D., Diaz, Vivian, Hardeman, John, Gohel, Anita
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Association of Oral and Maxillofacial Surgeons 29.02.2024; 대한구강악안면외과학회
• Subjects: Case Report; 치의학; Cone-beam computed tomography; Neurofibromatosis type 1; Central giant-cell granuloma
• ISSN: 2234-7550; 2234-5930
• DOI: 10.5125/jkaoms.2024.50.1.49

Neurofibromatosis type 1 (NF1) is an autosomally dominant tumor suppressor syndrome and multisystem disease. Central giant-cell granulomas (CGCGs) can be seen in patients with NF1. A 21-year-old female was diagnosed with two CGCGs, one in the mandible and then one in the maxilla, in a 7-year period. Increased incidence of CGCGs in NF1 patients was thought to be caused by an underlying susceptibility to developing CGCG-like lesions in qualitatively abnormal bone, such as fibrous dysplasia. However, germline and somatic truncating second-hit mutations in the NF1 gene have been detected in NF1 patients with CGCGs, validating that they are NF1-associated lesions. Oral manifestations in patients with NF1 are very common. Knowledge of these manifestations and the genetic link between NF1 and CGCGs will enhance early detection and enable optimal patient care.