title: [Birt-Hogg-Dubé syndrome with repeated pneumothorax; report of a case].
abstract: A 36-year-old man had been treated by thoracoscopic bullectomy because of left pneumothorax at another hospital. 2 weeks post-surgery, he was transferred to our hospital because of recurrent left pneumothorax. Chest computed tomography (CT) revealed multiple, irregular-shaped pulmonary cysts of various sizes predominating in the apex of both lungs. Thoracoscopy showed diffuse multiple thinwalled small cysts on the visceral pleura. Small cyst with air leakage was sutured and other cysts were cauterized. He was diagnosed as having Birt-Hogg-Dubé (BHD) syndrome by DNA sequence analysis of his FLCN gene.
authors.affiliation: Department of Thoracic Surgery, Matsue Medical Center, Matsue, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Matsuoka
authors.forename: Yoshin
authors.initials: Y
authors.lastname: Adachi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Metsugi
authors.forename: Takeshi
authors.initials: T
authors.lastname: Tokushima
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Adachi
mesh_terms: D000328:Adult; D001483:Base Sequence; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D011030:Pneumothorax / Q000209:etiology* / Q000601:surgery; D011518:Proto-Oncogene Proteins / Q000235:genetics; 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