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Open AccessCase Report

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

Unit of Oral Medicine and Maxillofacial Pathology, Division of Maxillofacial and Oral Surgery, Department of Surgery, Geneva University Hospitals, 1205 Geneva, Switzerland
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Received: 30 November 2020 / Revised: 22 December 2020 / Accepted: 29 December 2020 / Published: 7 January 2021
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. View Full-Text
Keywords: type 1 neurofibromatosis; oral mucosa; neurofibromas; cutaneous lesions; oral diseases type 1 neurofibromatosis; oral mucosa; neurofibromas; cutaneous lesions; oral diseases
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MDPI and ACS Style

Buchholzer, S.; Verdeja, R.; Lombardi, T. Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions. Dermatopathology 2021, 8, 17-24. https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8010003

AMA Style

Buchholzer S, Verdeja R, Lombardi T. Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions. Dermatopathology. 2021; 8(1):17-24. https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8010003

Chicago/Turabian Style

Buchholzer, Samanta; Verdeja, Raùl; Lombardi, Tommaso. 2021. "Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions" Dermatopathology 8, no. 1: 17-24. https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8010003

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