Spontaneous Pneumothorax: A Rare Complication of Neurofibromatosis Type 1 Associated Diffuse Lung Disease

The visually striking neurocutaneous findings of neurofibromatosis type 1 (NF1) are well recognized and have been well documented throughout scientific literature. While not uncommon, the pulmonary manifestations of NF1 are unknown to many physicians. Complications of NF1 associated diffuse lung dis...

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Main Authors: Emma I. Sherfinski, Mark H. Cooper
Format: Article
Language:English
Published: Marshall University 2022-10-01
Series:Marshall Journal of Medicine
Subjects:
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author Emma I. Sherfinski
Mark H. Cooper
author_facet Emma I. Sherfinski
Mark H. Cooper
author_sort Emma I. Sherfinski
collection DOAJ
description The visually striking neurocutaneous findings of neurofibromatosis type 1 (NF1) are well recognized and have been well documented throughout scientific literature. While not uncommon, the pulmonary manifestations of NF1 are unknown to many physicians. Complications of NF1 associated diffuse lung disease (NF-DLD) include pulmonary hypertension, pulmonary artery stenosis, subpleural cysts, and spontaneous pneumothorax. We present a case of a 34-year-old male with NF-DLD found incidentally in adolescence with previous apical bleb repair, presenting nearly twenty years later with spontaneous pneumothorax. In NF1 patients with pulmonary complaints, NF-DLD should be assessed with computed tomography (CT) and physicians should be familiar with associated complications.
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spelling doaj.art-99cb068774cb407c9983b7e068c18f6c2023-02-05T03:18:09ZengMarshall UniversityMarshall Journal of Medicine2379-95362022-10-018410.33470/2379-9536.1380Spontaneous Pneumothorax: A Rare Complication of Neurofibromatosis Type 1 Associated Diffuse Lung DiseaseEmma I. Sherfinski0Mark H. Cooper 1Marshall University Joan C. Edwards School of Medicine, Huntington, West VirginiaMarshall University Joan C. Edwards School of Medicine, Huntington, West VirginiaThe visually striking neurocutaneous findings of neurofibromatosis type 1 (NF1) are well recognized and have been well documented throughout scientific literature. While not uncommon, the pulmonary manifestations of NF1 are unknown to many physicians. Complications of NF1 associated diffuse lung disease (NF-DLD) include pulmonary hypertension, pulmonary artery stenosis, subpleural cysts, and spontaneous pneumothorax. We present a case of a 34-year-old male with NF-DLD found incidentally in adolescence with previous apical bleb repair, presenting nearly twenty years later with spontaneous pneumothorax. In NF1 patients with pulmonary complaints, NF-DLD should be assessed with computed tomography (CT) and physicians should be familiar with associated complications.neurofibromatosis type 1 (nf1)spontaneous pneumothoraxnf1 associated diffuse lung disease (nf-dld)bulbous lung disease
spellingShingle Emma I. Sherfinski
Mark H. Cooper
Spontaneous Pneumothorax: A Rare Complication of Neurofibromatosis Type 1 Associated Diffuse Lung Disease
Marshall Journal of Medicine
neurofibromatosis type 1 (nf1)
spontaneous pneumothorax
nf1 associated diffuse lung disease (nf-dld)
bulbous lung disease
title Spontaneous Pneumothorax: A Rare Complication of Neurofibromatosis Type 1 Associated Diffuse Lung Disease
title_full Spontaneous Pneumothorax: A Rare Complication of Neurofibromatosis Type 1 Associated Diffuse Lung Disease
title_fullStr Spontaneous Pneumothorax: A Rare Complication of Neurofibromatosis Type 1 Associated Diffuse Lung Disease
title_full_unstemmed Spontaneous Pneumothorax: A Rare Complication of Neurofibromatosis Type 1 Associated Diffuse Lung Disease
title_short Spontaneous Pneumothorax: A Rare Complication of Neurofibromatosis Type 1 Associated Diffuse Lung Disease
title_sort spontaneous pneumothorax a rare complication of neurofibromatosis type 1 associated diffuse lung disease
topic neurofibromatosis type 1 (nf1)
spontaneous pneumothorax
nf1 associated diffuse lung disease (nf-dld)
bulbous lung disease
work_keys_str_mv AT emmaisherfinski spontaneouspneumothoraxararecomplicationofneurofibromatosistype1associateddiffuselungdisease
AT markhcooper spontaneouspneumothoraxararecomplicationofneurofibromatosistype1associateddiffuselungdisease