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  • Title: A Case of Recurrent Pneumothorax Associated with Birt-Hogg-Dubé Syndrome Treated with Bilateral Simultaneous Surgery and Total Pleural Covering.
    Author: Takegahara K, Yoshino N, Usuda J.
    Journal: Ann Thorac Cardiovasc Surg; 2017 Dec 20; 23(6):309-312. PubMed ID: 28690286.
    Abstract:
    Birt-Hogg-Dubé syndrome is an autosomal dominant genetic disorder characterized by a triad of skin tumors, renal tumors, and multiple pulmonary cysts. Our patient was a 40-year-old man with a history of recurrent bilateral pneumothorax and a family history of pneumothorax. The patient visited our department with chest pain and was diagnosed with left pneumothorax based on a chest X-ray. Thoracic computed tomography (CT) showed multiple cysts in both lungs. We performed thoracoscopic bilateral bullectomy with curative intent. Intraoperative observation showed numerous cysts in the lung apex, interlobular region, and mediastinum. We resected the cysts that we suspected to be responsible for the symptoms and ligated the lesions, and then performed total pleural covering. After surgery, genetic testing was performed. The result enabled us to diagnose Birt-Hogg-Dubé syndrome in this patient. Although the patient has developed neither recurrent pneumothorax nor any renal tumors, to date, long-term monitoring is necessary.
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