title: Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome.
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.
authors.affiliation: University of Ottawa, The Ottawa Hospital, Division of Respiratory Medicine, Canada.
authors.forename: Andrew
authors.initials: A
authors.lastname: Burkett
authors.affiliation: University of Ottawa, The Ottawa Hospital, Department of Medical Imaging, Canada.
authors.forename: Niamh
authors.initials: N
authors.lastname: Coffey
authors.affiliation: University of Ottawa, Children's Hospital of Eastern Ontario, Department of Genetics, Canada.
authors.forename: Eva
authors.initials: E
authors.lastname: Tomiak
authors.affiliation: University of Ottawa, The Ottawa Hospital, Division of Respiratory Medicine, Canada.
authors.forename: Nha
authors.initials: N
authors.lastname: Voduc
keywords: Birt-Hogg-Dube; Cystic lung disease; Interstitial lung disease