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Article in Japanese
A case of Birt-Hogg-Dubé syndrome with bilateral renal cell carcinoma and pneumothorax has a novel mutation in exon 6 of the folliculin gene
Ryogo Emaa Shinichiro Moriokaa Aki Sakuraib Yoshihiro Mikia Kazuhiro Tomitaa Hidenori Nakamuraa
aDepartment of Respiratory Medicine, Seirei Hamamatsu General Hospital
bDepartment of Respiratory Medicine, Chiba University School of Medicine
A 53-year-old woman was admitted to our hospital with a diagnosis of left spontaneous pneumothorax. A CT scan demonstrated the left pneumothorax and bilateral multiple bullae, predominantly located in the subpleural and mediastinal areas in the bilateral lower lobes. It was interesting that pulmonary arteries were running across the center of some cysts. Since she was not cured by the drainage using chest tube, she was operated on for the resection of lung bullae. Pathological findings of the bulla were not specific and had no evidence of lymphangioleiomyomatosis. She was never a smoker, and was operated on for bilateral renal cell carcinoma 3 years earlier. Although she had no signs of fibrofolliculoma in her skin, we suspected Birt-Hogg-Dubé (BHD) syndrome. DNA sequential analyses in her folliculin genes demonstrated the deletion/insertion mutation in exon 6 (c.566_577delTGCTGGGGAAGGinsCC). BHD syndrome should be considered for differential diagnosis of the cause for spontaneous pneumothorax, especially if patients with pneumothorax show multiple bullae in the bilateral lungs and have a past or present illness of renal cell carcinoma and skin fibrofolliculoma.
Birt-Hogg-Dubé syndrome Pneumothorax Lung cyst Renal cell carcinoma Folliculin gene
Received 14 Dec 2011 / Accepted 17 May 2012
AJRS, 2(1): 13-17, 2013