Birt-Hogg-Dubé syndrome: case report and brief review of the literature

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. This syndrome is often underdiagnosed. Presence of lung cysts on chest CT should prompt inclusion of BHDS in the differential diagnosis, since these findings may develop earlier than other manifestations. There are key imaging characteristics of pulmonary cysts on CT of the chest which can suggest the diagnosis of BHDS and help in early detection and prompt screening for renal tumors. The main concern with BHDS is the increased risk of renal carcinoma. Here, we report a case of a 59-year-old male who was suspected to have the diagnosis of BHDS based on characteristic features of lung cysts on the Chest CT, subsequently confirmed by genetic testing.