Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome

Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in...

Descripción completa

Detalles Bibliográficos
Autores principales: Burkett, Andrew, Coffey, Niamh, Tomiak, Eva, Voduc, Nha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018093/
https://www.ncbi.nlm.nih.gov/pubmed/27642565
http://dx.doi.org/10.1016/j.rmcr.2016.08.006
_version_ 1782452858749190144
author Burkett, Andrew
Coffey, Niamh
Tomiak, Eva
Voduc, Nha
author_facet Burkett, Andrew
Coffey, Niamh
Tomiak, Eva
Voduc, Nha
author_sort Burkett, Andrew
collection PubMed
description Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene.
format Online
Article
Text
id pubmed-5018093
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-50180932016-09-16 Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome Burkett, Andrew Coffey, Niamh Tomiak, Eva Voduc, Nha Respir Med Case Rep Case Report Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene. Elsevier 2016-08-23 /pmc/articles/PMC5018093/ /pubmed/27642565 http://dx.doi.org/10.1016/j.rmcr.2016.08.006 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Burkett, Andrew
Coffey, Niamh
Tomiak, Eva
Voduc, Nha
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
title Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
title_full Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
title_fullStr Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
title_full_unstemmed Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
title_short Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
title_sort recurrent spontaneous pneumothoraces and bullous emphysema. a novel mutation causing birt-hogg-dube syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018093/
https://www.ncbi.nlm.nih.gov/pubmed/27642565
http://dx.doi.org/10.1016/j.rmcr.2016.08.006
work_keys_str_mv AT burkettandrew recurrentspontaneouspneumothoracesandbullousemphysemaanovelmutationcausingbirthoggdubesyndrome
AT coffeyniamh recurrentspontaneouspneumothoracesandbullousemphysemaanovelmutationcausingbirthoggdubesyndrome
AT tomiakeva recurrentspontaneouspneumothoracesandbullousemphysemaanovelmutationcausingbirthoggdubesyndrome
AT voducnha recurrentspontaneouspneumothoracesandbullousemphysemaanovelmutationcausingbirthoggdubesyndrome

Ejemplares similares