Radiologically indeterminate pulmonary cysts in Birt-Hogg-Dubé syndrome.
Birt-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.
Department of Thoracic Surgery, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan. Electronic address: onukitakuya@hotmail.com.
Takuya
T
Onuki
Department of Surgery (Thoracic Surgery), Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Yukinobu
Y
Goto
Department of Thoracic Surgery, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
Masami
M
Kuramochi
Department of Thoracic Surgery, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
Masaharu
M
Inagaki
Department of Pathology, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
Ekapot
E
Bhunchet
Department of Pathology, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
Keiko
K
Suzuki
Medical Mycology Research Center, Chiba University, Chiba, Japan.
Reiko
R
Tanaka
Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mitsuko
M
Furuya
D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000000981:diagnostic imaging* / Q000209:etiology*; D008875:Middle Aged; D010375:Pedigree; D011859:Radiography
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