NEUROFIBROMATOSIS TYPE 1: ORAL MANIFESTATIONS AND NINE YEARS MONITORING

• Published in: Oral surgery, oral medicine, oral pathology and oral radiology Vol. 134; no. 3; pp. e111 - e112
• Main Authors: Fernandes, Ighor Andrade, Benitez, Juciane Fagundes Durães, Santos, Cássio Roberto Rocha Dos, De Almeida, Luciana Yamamoto, Da Silveira, Heitor Albergoni, León, Jorge Esquiche, Mesquita, Ana Terezinha Marques
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01-09-2022
• ISSN: 2212-4403; 2212-4411
• DOI: 10.1016/j.oooo.2022.01.171

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant diseases. The wide clinical expression range, the risk of neurofibrosarcomas, and the unpredictable disease course make it necessary to regularly monitor patients with NF1. A 7-year-old male patient was referred presenting an increased volume in the right mandibular angle 1 year ago. On extraoral examination, cafe-au-lait macules on the chest were noticed. Incisional biopsy of the mandibular lesion revealed plexiform neurofibroma, and a diagnosis of NF1 was established. The patient was referred for treatment with a multidisciplinary team, and within 9 years of follow-up he was diagnosed with bilateral optic glioma and astrocytoma. He received surgical and chemotherapy care and is currently stable. It is important to highlight the early NF1 diagnosis, referral for multidisciplinary treatment, and strict clinical evaluation because of the risk of associated neoplasms.