A case of Birt-Hogg-Dubé syndrome with renal cell carcinoma and pneumothorax

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  • Takeuchi Yukiyasu
    Department of General Thoracic Surgery, National Hospital Organization Toneyama Hospital
  • Taniguchi Seiji
    Department of General Thoracic Surgery, National Hospital Organization Toneyama Hospital
  • Susaki Yoshiyuki
    Department of General Thoracic Surgery, National Hospital Organization Toneyama Hospital
  • Ose Naoko
    Department of General Thoracic Surgery, National Hospital Organization Toneyama Hospital
  • Hayashi Akio
    Department of General Thoracic Surgery, National Hospital Organization Toneyama Hospital
  • Maeda Hajime
    Department of General Thoracic Surgery, National Hospital Organization Toneyama Hospital

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Other Title
  • 腎癌と気胸を同時発見されたBirt-Hogg-Dubé症候群の1例

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Birt-Hogg-Dubé syndrome is an autosomal dominant inherited disorder characterized by skin lesions, renal tumors, and pneumothorax. A woman in her forties underwent an operation for pulmonary cysts and suturing and covering a relapsing pneumothorax. She had a previous history of simultaneous left renal cancer and left pneumothorax six years ago. Her mother, uncle, aunt, and cousin had a history of pneumothorax. Birt-Hogg-Dubé syndrome was suspected, and a genetic examination was performed. The examination revealed mutation of the FLCN gene and she was diagnosed with Birt-Hogg-Dubé syndrome. Because the long-term prognosis associated with Birt-Hogg-Dubé syndrome has not been fully clarified, long-term follow-up is necessary.

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