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Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We pre...

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Autores principales: Lorentzen, Tine, Madsen, Hanne, Lausten-Thomsen, Marie Josée Zareh, Bygum, Anette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7978331/
https://www.ncbi.nlm.nih.gov/pubmed/33737277
http://dx.doi.org/10.1136/bcr-2020-238694
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author Lorentzen, Tine
Madsen, Hanne
Lausten-Thomsen, Marie Josée Zareh
Bygum, Anette
author_facet Lorentzen, Tine
Madsen, Hanne
Lausten-Thomsen, Marie Josée Zareh
Bygum, Anette
author_sort Lorentzen, Tine
collection PubMed
description Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We present a 56-year-old patient with a pathogenic variant of the NF1 gene, who suffered from NF1 with lung manifestations and recurrent SSP. It is essential to identify the patients having an increased risk of developing SSP as preventive surgery seem to decrease the risk of new events. Pneumothorax can be a clinical manifestation of NF1 but is not yet widely acknowledged as such.
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spelling pubmed-79783312021-03-30 Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1 Lorentzen, Tine Madsen, Hanne Lausten-Thomsen, Marie Josée Zareh Bygum, Anette BMJ Case Rep Case Report Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We present a 56-year-old patient with a pathogenic variant of the NF1 gene, who suffered from NF1 with lung manifestations and recurrent SSP. It is essential to identify the patients having an increased risk of developing SSP as preventive surgery seem to decrease the risk of new events. Pneumothorax can be a clinical manifestation of NF1 but is not yet widely acknowledged as such. BMJ Publishing Group 2021-03-18 /pmc/articles/PMC7978331/ /pubmed/33737277 http://dx.doi.org/10.1136/bcr-2020-238694 Text en © BMJ Publishing Group Limited 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Case Report
Lorentzen, Tine
Madsen, Hanne
Lausten-Thomsen, Marie Josée Zareh
Bygum, Anette
Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
title Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
title_full Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
title_fullStr Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
title_full_unstemmed Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
title_short Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
title_sort spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7978331/
https://www.ncbi.nlm.nih.gov/pubmed/33737277
http://dx.doi.org/10.1136/bcr-2020-238694
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