title: Pneumomediastinum and striking family history: uncommon case of Birt-Hogg-Dubé syndrome.
abstract: Birt-Hogg-Dubé syndrome is a rare autosomal dominant condition caused by a germline mutation in the folliculin gene, which is characterized by skin fibrofolliculomas, multiple lung cysts and renal cancer. The clinical expression of the syndrome is highly variable, with recurrent pneumothoraces due to ruptured lung cysts in many cases. We report a patient with pneumomediastinum and cervico-facial emphysema after severe coughing without pneumothorax, skin lesions or renal tumour, but a striking family history of lung abnormalities.
authors.affiliation: Department III of Internal Medicine, University of Cologne, Germany.
authors.forename: Guido
authors.initials: G
authors.lastname: Michels
authors.forename: Erland
authors.initials: E
authors.lastname: Erdmann
authors.forename: Winfried
authors.initials: W
authors.lastname: Schmidt
authors.forename: Konrad F
authors.initials: KF
authors.lastname: Frank
authors.forename: Roman
authors.initials: R
authors.lastname: Pfister
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D003371:Cough / Q000150:complications; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008478:Mediastinal Emphysema / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins