Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions

• Main Authors: Samanta Buchholzer, Raùl Verdeja, Tommaso Lombardi
• Format: Article
• Language: English
• Published: MDPI AG 2021-01-01
• Series: Dermatopathology
• Subjects: type 1 neurofibromatosis; oral mucosa; neurofibromas; cutaneous lesions; oral diseases
• Online Access: https://www.mdpi.com/2296-3529/8/1/3

Neurofibromatosis type 1 (NF1) is a common genetic disease whose dermatological lesions are at the forefront of its development. Cutaneous manifestations include café au lait spots, intertriginous freckling, and neurofibromas which appear during childhood and adolescence and are part of the clinical criteria to diagnose NF1. However, it is only recently that oral manifestations have been highlighted in many studies as frequently associated to NF1. This article aims to review oral and cutaneous manifestations related to NF1 and to report a case of a 51-year-old male with skin and oral neurofibromas related to NF1. Our patient presented with lesions on the gingiva, a rare localization that takes a hypertrophic form mimicking other various pathological conditions. Although not frequent, malignant transformation in NF1, especially regarding plexiform neurofibromas, is well established. Patients with NF1 therefore have regular follow-ups based on clinical examination, as sarcomatous transformation brings an extremely poor prognosis, recurrences and distant metastasis being common.