A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax

The Birt–Hogg–Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax....

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Autores principales: Vogl, Melanie, Scheed, Axel, Seebacher, Gernot, Stubenberger, Elisabeth, Ghanim, Bahil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104189/
https://www.ncbi.nlm.nih.gov/pubmed/32257251
http://dx.doi.org/10.1093/omcr/omaa016
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author Vogl, Melanie
Scheed, Axel
Seebacher, Gernot
Stubenberger, Elisabeth
Ghanim, Bahil
author_facet Vogl, Melanie
Scheed, Axel
Seebacher, Gernot
Stubenberger, Elisabeth
Ghanim, Bahil
author_sort Vogl, Melanie
collection PubMed
description The Birt–Hogg–Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax. Computed tomography images and a positive family history for pneumothoraces led to the suspicion of Birt–Hogg–Dubé syndrome. Genetic testing then confirmed the suspected clinical diagnosis, however with a mutation that has not yet been reported.
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spelling pubmed-71041892020-04-03 A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax Vogl, Melanie Scheed, Axel Seebacher, Gernot Stubenberger, Elisabeth Ghanim, Bahil Oxf Med Case Reports Case Report The Birt–Hogg–Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax. Computed tomography images and a positive family history for pneumothoraces led to the suspicion of Birt–Hogg–Dubé syndrome. Genetic testing then confirmed the suspected clinical diagnosis, however with a mutation that has not yet been reported. Oxford University Press 2020-03-30 /pmc/articles/PMC7104189/ /pubmed/32257251 http://dx.doi.org/10.1093/omcr/omaa016 Text en © The Author(s) 2020. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Vogl, Melanie
Scheed, Axel
Seebacher, Gernot
Stubenberger, Elisabeth
Ghanim, Bahil
A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax
title A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax
title_full A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax
title_fullStr A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax
title_full_unstemmed A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax
title_short A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax
title_sort novel mutation of the folliculin gene causing birt–hogg–dubé syndrome as rare cause for secondary pneumothorax
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104189/
https://www.ncbi.nlm.nih.gov/pubmed/32257251
http://dx.doi.org/10.1093/omcr/omaa016
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