Chest
Selected ReportsCystic Lung Disease in Birt-Hogg-Dubé Syndrome
Section snippets
Study Population
A computer-aided search was conducted to identify all patients seen at the Mayo Clinic in Rochester, MN, during an 8-year period from January 1, 1998, to December 31, 2005, with a diagnosis of BHD syndrome or fibrofolliculoma. We identified seven patients with BHD syndrome, five of whom had CT of chest available for review and were included in this study. In all five patients, the diagnosis was confirmed clinically. Three patients chose to have genetic testing, and each patient was heterozygous
Patient Characteristics
None of the patients had a diagnosis of BHD syndrome at the time of the initial evaluation at our institution for skin lesions (three patients), renal mass (one patient), and recurrent pneumothorax (one patient). Mean age (± SD) at the time of pulmonary evaluation was 56.4 ± 4.8 years; four of five patients were men (Table 1). Three patients did not have BHD syndrome diagnosed at the time of the initial CT scan of the chest. Further examination after initial presentation revealed characteristic
Discussion
In this study, cystic lung disease was seen by CT in all five middle-aged patients with BHD syndrome; two of these patients had recurrent pneumothoraces. All five patients had skin lesions characteristic of BHD syndrome; two patients had previously undergone resection of renal tumors (clear cell and chromophobe renal cancers, respectively) associated with BHD syndrome. Pulmonary function was only mildly impaired and may have been affected by smoking and pleural complications as well as the
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The authors have no conflicts of interest to disclose.