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KMID : 0882420190940040379
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Korean Journal of Medicine
2019 Volume.94 No. 4 p.379 ~ p.382
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Birt-Hogg-Dube Syndrome Associated with a Renal Tumor
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Oh Su-Jin
Hwang Jong-Yun
Jeong Eun-Taik
Kim Hak-Ryul
Choi Keum-Ha
Ryu Dae-Woong
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Abstract
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Birt-Hogg-Dube syndrome (BHD) is a rare autosomal dominant disorder characterized by the formation of hair follicle tumors, kidney tumors, and pulmonary cysts with recurrent spontaneous pneumothorax. A 44-year-old woman visited Wonkwang University Hospital with mild dyspnea. A chest X-ray on admission revealed pneumothorax in both lung fields. Chest computed tomography (CT) revealed both pneumothorax and multiple, irregularly shaped, variable-sized cysts in both lung fields. Upon physical examination, white dome-shaped papules were observed on the face. Histological examination of the skin lesion confirmed fibrofolliculoma, and genetic studies revealed a folliculin gene mutation. Abdominal CT revealed a 1-cm small solid renal mass at the lower pole of the right kidney. We surgically removed the renal tumor, and a histological diagnosis of oncocytoma was made. Here, we report a case of BHD that demonstrated all three clinical manifestations; this is the first case report of its kind in Korea.
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KEYWORD
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Birt-Hogg-Dube syndrome, Kidney neoplasms, Pneumothorax
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