Korean J Med.  2019 Aug;94(4):379-382. 10.3904/kjm.2019.94.4.379.

Birt-Hogg-Dubé Syndrome Associated with a Renal Tumor

Affiliations
  • 1Department of Internal Medicine, Wonkwang University Hospital, Iksan, Korea. kshryj@wku.ac.kr
  • 2Department of Pathology, Wonkwang University Hospital, Iksan, Korea.
  • 3Department of Thoracic surgery, Wonkwang University Hospital, Iksan, Korea.

Abstract

Birt-Hogg-Dubé 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.

Keyword

Birt-Hogg-Dubé syndrome; Kidney neoplasms; Pneumothorax
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