title: Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax.
abstract: Birt-Hogg-Dube syndrome refers to a dermatologic syndrome, consisting of small papular skins lesion distributed on the scalp, forehead, face and neck, which is autosomal dominantly inherited. Subsequently patients may develop concomitant renal and thoracic pathology. We report the case of a patient with Birt-Hogg-Dube syndrome diagnosed after spontaneous pneumothorax.
authors.affiliation: Department of Thoracic Surgery, Centre Hospitalier Universitaire Vaudois, Switzerland. opittet@scanvirus.ch
authors.forename: Olivier
authors.initials: O
authors.lastname: Pittet
authors.forename: Michel
authors.initials: M
authors.lastname: Christodoulou
authors.forename: Olivier
authors.initials: O
authors.lastname: Staneczek
authors.forename: Hans-Beat
authors.initials: HB
authors.lastname: Ris
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003560:Cysts / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008171:Lung Diseases / Q000150:complications / Q000235:genetics*; D011030:Pneumothorax / Q000209:etiology* / Q000601:surgery; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012422:Rupture, Spontaneous; D017444:Skin Diseases, Papulosquamous / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D011506:Proteins; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins