Birt-Hogg-Dubé Syndrome Presenting as Pneumothorax

Birt-Hogg-Dub (BHD) syndrome is an autosomal dominant disease caused by mutation of the folliculin (FLCN) gene; the syndrome is characterized by skin changes, cysts in the lungs and kidney tumors.The characteristic of computed tomography (CT) scan finding aids in diagnosing this syndrome when presenting as isolated lung involvement.The most fearful manifestation of BHD is renal cell carcinoma, which demands regular screening and early intervention before metastasis commences.There have been a few case reports on the varied presentations of BHD.