Pneumomediastinum and Striking Family History: Uncommon Case of Birt-Hogg-Dubé Syndrome

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概要

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• Birt-Hogg-Dubé syndrome is a rare autosomal dominant condition caused by a germline mutation in the folliculin gene, which is characterized by skin fibrofolliculomas, multiple lung cysts and renal cancer. The clinical expression of the syndrome is highly variable, with recurrent pneumothoraces due to ruptured lung cysts in many cases. We report a patient with pneumomediastinum and cervico-facial emphysema after severe coughing without pneumothorax, skin lesions or renal tumour, but a striking family history of lung abnormalities.

• 社団法人 日本内科学会の論文

著者

• Pfister Roman

  Department III of Internal Medicine, University of Cologne, Germany

• Michels Guido

  Department III of Internal Medicine, University of Cologne, Germany

• Erdmann Erland

  Department III of Internal Medicine, University of Cologne, Germany

• Schmidt Winfried

  Humangenetik, Labor Lademannbogen MVZ GmbH, Germany

• Frank Konrad

  Department III of Internal Medicine, University of Cologne, Germany

関連論文

• Pneumomediastinum and Striking Family History: Uncommon Case of Birt-Hogg-Dubé Syndrome

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