Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas

• Main Authors: Yukako Murakami (Author), Mari Wataya-Kaneda (Author), Mari Tanaka (Author), Aya Takahashi (Author), Akira Tsujimura (Author), Koji Inoue (Author), Norio Nonomura (Author), Ichiro Katayama (Author)
• Format: Book
• Published: Karger Publishers, 2014-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant inherited disease caused by a germline mutation in the folliculin gene mapped in the region of chromosome 17p11.2. BHD predisposes the patient to cutaneous fibrofolliculomas (FFs), pulmonary cysts (PCs), and renal cell carcinoma (RC). Here,...