Birt–Hogg–Dubé – a rare case of cystic lung disease

Abstract

The differential diagnosis of cystic lung disease in adults includes inherited genetic
syndromes and several acquired conditions. Birt–Hogg–Dubé syndrome (BHD) is a rare
inherited cystic lung disease associated with an increased risk of renal cell carcinoma,
pulmonary cysts, and spontaneous pneumothorax that is not typically included in the differential
diagnosis. Early recognition of this potentially life threatening syndrome is important and may
help prevent complications associated with this disease entity. The presence of spontaneous
pneumothorax in this patient population is estimated at 30 %, and 12–34 % of patients with
BHD are eventually diagnosed with renal cancer, usually by age 50 years.