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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-7838883 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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