The case involved a 35-year-old woman who underwent surgery for left spontaneous pneumothorax at another hospital 6 years previously and thereafter experienced recurrences twice which were conservatively treated. Recently she felt right chest pain when she got up and visited a neighboring hospital. She was referred to our hospital with a diagnosis of second-degree right pneumothorax. A chest CT scan revealed multiple lung cysts in the right middle lower lobe. A patient interview revealed that

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... r mother also had a history of pneumothorax. Hereditary pulmonary cystic disease was likely. Since she had developed metachronous bilateral pneumothoraxes, we decided to indicate surgery. We performed video-assisted thoracoscopic removal of the lung cysts. The postoperative course was uneventful and she was discharged from our hospital on the 5 th postoperative day. A genetic analysis performed after discharge revealed mutation of exon 12 in the FLCN gene that was compatible with Birt-Hogg-Dube (BHD) syndrome. Since BHD syndrome is a rare entity, has a variety of expressions, and requires the genetic analysis to make the definite diagnosis, the diagnosis of the syndrome is difficult. This paper deals with a case of BHD syndrome presented with recurrent pneumothorax.