Correlation of classic history, imaging and pathology with novel genetics in Birt-Hogg-Dubé syndrome

A spontaneous pneumothorax may be the heralding manifestation of diffuse cystic lung disease (DCLD). Historically, these diagnoses were differentiated by unique clinical, radiographic and tissue pathology characteristics. With recent advancements in genomics, several forms of DCLD can now be diagnosed through genetic testing and patients can thereby avoid undergoing an invasive lung biopsy. We present a case of a young patient with recurrent spontaneous pneumothoraces associated with a rare DCLD, Birt-Hogg-Dubé syndrome, that exemplifies the manifestations of this disease through classic history, imaging and pathology, along with the diagnostic utility of novel genotypic technology in the modern era.