Birt-Hogg-Dubes syndrom - Förbisett tillstånd som medför ökad risk för njurcancer och
pneumotorax
Sammanfattning
Birt–Hogg–Dubés syndrome (BHD) is an autosomal dominant disease characterized by fibrofolliculomas, spontaneous pneumothorax and renal cancer. It was first described in 1977, and in 2002 mutations in the FLCN gene were identified as the cause of the disease. The gene encodes the protein folliculin whose function is largely unknown but has been linked to mTOR pathway. It is important to identify individuals with a FLCN mutation in order to include them in a screening program for early detection and treatment of renal cancer. For the medical profession it is important to recognize the typical skin lesions (fibrofolliculomas) of BHD and to consider the syndrome in families with several cases of renal cancer and/or spontaneous pneumothorax.