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Cystic Lung Disease in Birt-Hogg-Dubé Syndrome

Dereje S. Ayo, M.D.^*; Gregory L. Aughenbaugh, M.D.; Eunhee S. Yi, M.D.; Jennifer L. Hand, M.D.^,+ and Jay H. Ryu, M.D.^*

^*Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN Department of Radiology, Mayo Clinic, Rochester, MN Division of Anatomic Pathology, Mayo Clinic, Rochester, MN Department of Dermatology, Mayo Clinic, Rochester, MN ⁺Department of Medical Genetics, Mayo Clinic, Rochester, MN

ryu.jay{at}mayo.edu

Abstract

BackgroundTo describe the clinical, radiologic and histopathologic aspects of cystic lung disease occurring in patients Birt-Hogg-Dubé (BHD) syndrome, a rare inheritable multisystem disorder.

MethodsWe retrospectively reviewed 5 patients with BHD evaluated at the Mayo Clinic Rochester during the period 1998 through 2005.

ResultsThe mean age (± SD) at the time of pulmonary evaluation was 56.4 yr (± 4.8); 4 were men. Three patients had not previously been diagnosed to have BHD at the time of their initial computed tomography (CT) of the chest. Three patients had a smoking history, 2 were nonsmokers. Two patients had a previous history of recurrent pneumothoraces. Pulmonary function results available in 4 patients revealed normal results in one patient and mild airflow obstruction or nonspecific pattern of abnormalities in 3 patients. CT of the chest revealed cystic lung disease in all 5 patients; cysts were round to oval in shape, ranged widely in size, and were randomly distributed throughout the lungs except for a predilection to involve the lung bases more extensively. Three patients with a smoking history had more severe cystic changes compared to nonsmokers and included both patients with recurrent pneumothoraces. Surgical lung biopsy available in 1 patient revealed emphysema-like changes. Follow up CT scans available in 4 patients revealed relative stability over a median interval of 20 months (range, 3 months to 66 months).

ConclusionWe conclude that cystic lung disease in BHD syndrome varies widely in severity, mimics pulmonary lymphangioleiomyomatosis, and may be worsened by smoking.

Key Words: Birt-Hogg-Dubé Syndrome • CAT scan pulmonary • Cystic lung disease • Fibrofolliculoma • Pneumothorax • Smoking

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