title: A rare cause of cystic lung disease - Birt-Hogg-Dubé syndrome.
abstract: Birt-Hogg-Dubé syndrome, initially described in 1977, is an autosomal dominant inherited condition characterised by basal pulmonary cysts often resulting in pneumothorax, renal tumours and cutaneous involvement. Lung cysts have been described in up to 90% of patients with a corresponding risk of pneumothorax of 50 times greater than the normal population. We describe here a case of Birt-Hogg-Dubé diagnosed in the 9th decade of life and discuss the radiological findings and clinical implications.
authors.affiliation: Dept. of Respiratory Medicine, St Vincent's University Hospital and School of Medicine and Medical Science, UCD Conway Institute, University College Dublin, Belfield, Dublin, 4, Ireland.
authors.forename: P
authors.initials: P
authors.lastname: Minnis
authors.affiliation: Dept. of Respiratory Medicine, St Vincent's University Hospital and School of Medicine and Medical Science, UCD Conway Institute, University College Dublin, Belfield, Dublin, 4, Ireland.
authors.forename: P
authors.initials: P
authors.lastname: Riddell
authors.affiliation: Dept. of Respiratory Medicine, St Vincent's University Hospital and School of Medicine and Medical Science, UCD Conway Institute, University College Dublin, Belfield, Dublin, 4, Ireland.
authors.forename: M P
authors.initials: MP
authors.lastname: Keane
keywords: BHD, Birt-Hogg-Dube ´syndrome; Birt-Hogg-Dubé syndrome; Cutaneous lesions; FLCN, folliculin; HRCT, high resolution computed tomography; LAM, lymphangioleiomyomatosis; LCH, langerhans cell histiocytosis; LIP, lymphocytic interstitial pneumonia; PCP, jirovecii pneumonia; Pneumothorax; Pulmonary cysts; Renal tumors; mTOR, mammalian target of rapamycin