신장종양이 동반된 Birt-Hogg-Dube Syndrome
Birt-Hogg-Dube Syndrome Associated with a Renal Tumor
오수진, 황종윤, 정은택, 김학렬, 최금하, 류대웅,
소속 상세정보
오수진 ( Oh Su-Jin )
원광대학교병원 호흡기내과
황종윤 ( Hwang Jong-Yun )
원광대학교병원 호흡기내과
정은택 ( Jeong Eun-Taik )
원광대학교병원 호흡기내과
김학렬 ( Kim Hak-Ryul )
원광대학교병원 호흡기내과
최금하 ( Choi Keum-Ha )
원광대학교병원 병리과
류대웅 ( Ryu Dae-Woong )
원광대학교병원 흉부외과
Abstract
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.
키워드
Birt-Hogg-Dube syndrome; Kidney neoplasms; Pneumothorax
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