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

• 영문명: Central giant-cell granuloma in a patient with neurofibromatosis type 1: 7 years of follow-up
• 발행기관: 대한구강악안면외과학회
• 저자명: Michelle Briner Garrido Rohan Jagtap Christopher D. Matesi Vivian Diaz John Hardeman Anita Gohel
• 간행물 정보: 『대한구강악안면외과학회지』제50권 제1호, 49~55쪽, 전체 7쪽
• 주제분류: 의약학 > 일반외과학
• 파일형태: PDF
• 발행일자: 2024.02.28

영문 초록

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.

목차

I. Introduction

II. Case Report

III. Discussion

ORCID

Authors’ Contributions

Funding

Conflict of Interest

References

키워드

Neurofibromatosis type 1 Central giant-cell granuloma Cone-beam computed tomography