The differential diagnosis of cystic lung disease in adults includes inherited geneticsyndromes and several acquired conditions. Birt–Hogg–Dubé syndrome (BHD) is a rareinherited cystic lung disease associated with an increased risk of renal cell carcinoma,pulmonary cysts, and spontaneous pneumothorax that is not typically included in the differentialdiagnosis. Early recognition of this potentially life threatening syndrome is important and mayhelp prevent complications associated with this

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... se entity. The presence of spontaneouspneumothorax in this patient population is estimated at 30 %, and 12–34 % of patients withBHD are eventually diagnosed with renal cancer, usually by age 50 years.