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

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...

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Autores principales: Buchholzer, Samanta, Verdeja, Raùl, Lombardi, Tommaso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838883/
https://www.ncbi.nlm.nih.gov/pubmed/33430291
http://dx.doi.org/10.3390/dermatopathology8010003
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author Buchholzer, Samanta
Verdeja, Raùl
Lombardi, Tommaso
author_facet Buchholzer, Samanta
Verdeja, Raùl
Lombardi, Tommaso
author_sort Buchholzer, Samanta
collection PubMed
description 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.
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spelling pubmed-78388832021-01-28 Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions Buchholzer, Samanta Verdeja, Raùl Lombardi, Tommaso Dermatopathology (Basel) Case Report 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. MDPI 2021-01-07 /pmc/articles/PMC7838883/ /pubmed/33430291 http://dx.doi.org/10.3390/dermatopathology8010003 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Buchholzer, Samanta
Verdeja, Raùl
Lombardi, Tommaso
Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions
title Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions
title_full Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions
title_fullStr Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions
title_full_unstemmed Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions
title_short Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions
title_sort type i neurofibromatosis: case report and review of the literature focused on oral and cutaneous lesions
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838883/
https://www.ncbi.nlm.nih.gov/pubmed/33430291
http://dx.doi.org/10.3390/dermatopathology8010003
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