title: Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.
abstract: Birt-Hogg-Dubé (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene. We report a patient with familial spontaneous pneumothorax who was found to have BHD syndrome. Patients with a personal and family history of pneumothoraces and computed tomographic (CT) findings of multiple pulmonary cysts should alert the thoracic surgeon to this syndrome; additional evaluation and testing may be warranted.
authors.affiliation: Division of Thoracic Surgery and Interventional Pulmonology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
authors.forename: Andrew
authors.initials: A
authors.lastname: Auerbach
authors.affiliation: Division of Pulmonary, Critical Care and Sleep Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
authors.forename: David H
authors.initials: DH
authors.lastname: Roberts
authors.affiliation: Division of Thoracic Surgery and Interventional Pulmonology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
authors.forename: Sidhu P
authors.initials: SP
authors.lastname: Gangadharan
authors.affiliation: Division of Thoracic Surgery and Interventional Pulmonology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts. Electronic address: mkent@bidmc.harvard.edu.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Kent
mesh_terms: D000328:Adult; D058249:Birt-Hogg-Dube Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011030:Pneumothorax / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics* / Q000378:metabolism; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins