Journal of the Korean Association of Oral and Maxillofacial Surgeons

The Korean Association of Oral and Maxillofacial Surgeons (대한구강악안면외과학회)
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Central giant-cell granuloma in a patient with neurofibromatosis type 1: 7 years of follow-up

  • Michelle Briner Garrido (Department of Oral Pathology, Radiology and Medicine, University of Missouri-Kansas City (UMKC) School of Dentistry) ;
  • Rohan Jagtap (Division of Oral and Maxillofacial Radiology, Department of Care Planning and Restorative Sciences, University of Mississippi Medical Center (UMMC) School of Dentistry) ;
  • Christopher D. Matesi (Oral and Maxillofacial Radiologist) ;
  • Vivian Diaz (Oral and Maxillofacial Radiologist) ;
  • John Hardeman (Department of Oral and Maxillofacial Surgery, University of Florida (UF) College of Dentistry) ;
  • Anita Gohel (Department of Oral and Maxillofacial Diagnostic Sciences, University of Florida (UF) College of Dentistry)
  • Received : 2022.12.15
  • Accepted : 2023.02.01
  • Published : 2024.02.29
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Abstract

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.

Keywords

References

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