title: Lung cysts as indicator for Birt-Hogg-Dubé syndrome.
abstract: In this case, we describe a patient with a history of recurrent pneumothorax. Based on CT-thorax and histopathology of the lung tissue, the Birt-Hogg-Dubé syndrome was suspected and confirmed after genetic testing. Recognizing this syndrome by pulmonologists and radiologists is very important, because the risk on developing of renal cell cancer is high.
authors.affiliation: Department of Pulmonary Diseases, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.
authors.forename: P C
authors.initials: PC
authors.lastname: Johannesma
authors.forename: E
authors.initials: E
authors.lastname: Thunnissen
authors.forename: P E
authors.initials: PE
authors.lastname: Postmus
mesh_terms: D000328:Adult; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D003560:Cysts / Q000175:diagnosis / Q000209:etiology*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008171:Lung Diseases / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D009154:Mutation; D010641:Phenotype; D011030:Pneumothorax / Q000209:etiology; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012008:Recurrence; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins