신장종양이 동반된 Birt-Hogg-Dube Syndrome

• Published in: The Korean journal of medicine Vol. 94; no. 4; pp. 379 - 382
• Main Authors: 오수진, Su-jin Oh, 황기은, Ki-eun Hwang, 정은택, Eun-taik Jeong, 김학렬, Hak-ryul Kim, 최금하, Keum-ha Choi, 류대웅, Dae Woong Ryu
• Format: Journal Article
• Language: English; Korean
• Published: 대한내과학회 01.08.2019
• Subjects: Birt-Hogg-Dube syndrome; Kidney neoplasms; Pneumothorax; Birt-Hogg-Dube 증후군; 신장종양; 기흉; 내과학
• ISSN: 1738-9364; 2289-0769
• DOI: 10.3904/kjm.2019.94.4.379

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 fi-brofolliculoma, 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. (Korean J Med 2019;94:379-382)