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Burkett A, Coffey N, Tomiak E, et al. Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. Respir Med Case Rep. 2016;19:106-8doi: 10.1016/j.rmcr.2016.08.006.
Burkett, A., Coffey, N., Tomiak, E., & Voduc, N. (2016). Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. Respiratory medicine case reports, 19106-8. https://doi.org/10.1016/j.rmcr.2016.08.006
Burkett, Andrew, et al. "Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome." Respiratory medicine case reports vol. 19 (2016): 106-8. doi: https://doi.org/10.1016/j.rmcr.2016.08.006
Burkett A, Coffey N, Tomiak E, Voduc N. Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. Respir Med Case Rep. 2016 Aug 23;19:106-8. doi: 10.1016/j.rmcr.2016.08.006. eCollection 2016. PMID: 27642565; PMCID: PMC5018093.
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Respir Med Case Rep. 2016 Aug 23;19:106-8. doi: 10.1016/j.rmcr.2016.08.006. eCollection 2016.

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

Respiratory medicine case reports

Andrew Burkett, Niamh Coffey, Eva Tomiak, Nha Voduc

Affiliations

  1. University of Ottawa, The Ottawa Hospital, Division of Respiratory Medicine, Canada.
  2. University of Ottawa, The Ottawa Hospital, Department of Medical Imaging, Canada.
  3. University of Ottawa, Children's Hospital of Eastern Ontario, Department of Genetics, Canada.

PMID: 27642565 PMCID: PMC5018093 DOI: 10.1016/j.rmcr.2016.08.006

Abstract

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.

Keywords: Birt-Hogg-Dube; Cystic lung disease; Interstitial lung disease

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