A Case of Spontaneous Pneumothorax: Don't Miss Birt-Hogg Dubé Syndrome!

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant multiorgan systemic disorder ‎manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, ‎and renal tumors. It results from mutation of the gene located on the short arm of chromosome 17 ‎‎(17p11.2). The gene codes for the protein folliculin, which is believed to be an oncogene ‎suppressor protein. we report a case of a 66-year-old male who was suspected to have the ‎diagnosis of BHDS based on recurrent pneumothorax , family history of pneumothorax and ‎characteristic features of lung cysts on the Chest CT, subsequently confirmed by genetic testing.