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KMID : 1103720110640010039
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Journal of the Korean Society of Radiology
2011 Volume.64 No. 1 p.39 ~ p.43
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Spontaneous Pneumothorax in Birt-Hogg-Dube Syndrome: Two Case Reports
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Bae Hyoung-Ju
Woo Ok-Hee
Yong Hwan-Seok
Kang Eun-Young
Kim Hyun-Koo
Choi Young-Ho
Shin Bong-kyung
Kim Yoon-Kyung
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Abstract
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Birt-Hogg-Dube′(BHD) syndrome is a rare autosomal dominant inherited disorder that is characterized by skin fibrofolliculomas, renal tumors and multiple lung cysts with or without spontaneous pneumothorax. The disease is caused by germline mutations in the FLCN gene that codes for a protein of unknown function called folliculin. Patients with BHD syndrome do not always have all three manifestations of the skin, kidney and lung. To the best of our knowledge, there has been no case report of the radiologic findings of the lung manifestation in a patient with BHD syndrome in Korea. We report here on two cases of BHD syndrome that presented with spontaneous pneumothorax. The pulmonary abnormalities consisted of multiple thin-walled cysts of various sizes and shapes in both lungs.
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KEYWORD
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Lung, Cysts, Pneumothorax
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