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

Andrew Burkett; Niamh Coffey; Eva Tomiak; Nha Voduc

doi:10.1016/j.rmcr.2016.08.006

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.

Authors

Andrew Burkett¹, Niamh Coffey², Eva Tomiak³, Nha Voduc¹

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.

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.

Publication types

Case Reports