Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

Tine Lorentzen; Hanne Madsen; Marie Josée Zareh Lausten-Thomsen; Anette Bygum

doi:10.1136/bcr-2020-238694

Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

Tine Lorentzen^*, Hanne Madsen, Marie Josée Zareh Lausten-Thomsen, Anette Bygum

^*Corresponding author for this work

Research output: Contribution to journal › Journal article › Research › peer-review

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Abstract

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.

Original language	English
Article number	e238694
Journal	BMJ Case Reports
Volume	14
Issue number	3
Number of pages	4
ISSN	1757-790X
DOIs	https://doi.org/10.1136/bcr-2020-238694
Publication status	Published - 18. Mar 2021

Bibliographical note

Publisher Copyright:
© BMJ Publishing Group Limited 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Keywords

Dermatology
Genetics
Pneumothorax
Respiratory medicine

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10.1136/bcr-2020-238694Licence: CC BY-NC

Open Access VersionFinal published version, 354 KBLicence: CC BY-NC

Cite this

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title = "Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1",

abstract = "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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AU - Lorentzen, Tine

AU - Madsen, Hanne

AU - Lausten-Thomsen, Marie Josée Zareh

AU - Bygum, Anette

N1 - Publisher Copyright: © BMJ Publishing Group Limited 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

PY - 2021/3/18

Y1 - 2021/3/18

N2 - 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.

AB - 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.

KW - Dermatology

KW - Genetics

KW - Pneumothorax

KW - Respiratory medicine

U2 - 10.1136/bcr-2020-238694

DO - 10.1136/bcr-2020-238694

M3 - Journal article

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SN - 1757-790X

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Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

Abstract

Bibliographical note

Keywords

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