• Ann. Thorac. Surg. · Feb 2014

    Case Reports

    Radiologically indeterminate pulmonary cysts in Birt-Hogg-Dubé syndrome.

    • Takuya Onuki, Yukinobu Goto, Masami Kuramochi, Masaharu Inagaki, Ekapot Bhunchet, Keiko Suzuki, Reiko Tanaka, and Mitsuko Furuya.
    • Department of Thoracic Surgery, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan. Electronic address: onukitakuya@hotmail.com.
    • Ann. Thorac. Surg. 2014 Feb 1;97(2):682-5.

    AbstractBirt-Hogg-Dubé (BHD) syndrome is an inherited disease characterized by recurrent pneumothorax. We report some unusual clinicopathologic features of the lung in a Japanese family with this syndrome presenting with recurrent pneumothorax. Radiologic imaging did not show detectable lesions; however, at video-assisted thoracic surgery (VATS), multiple diffusely distributed microcysts were visible on the pleura. This characteristic morphologic feature was common to all affected family members. The proband underwent genetic testing and BHD syndrome was diagnosed. Although many patients with BHD syndrome with pneumothorax show obvious pulmonary cysts, this case suggests that radiologically indeterminate cysts have the potential to cause pneumothorax.Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

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