The germ line mutation of the
folliculin (FLCN) gene is critical for the definite diagnosis of Birt-Hogg-Dube; syndrome.
There are isolated case reports of other multiple tumors forming in patients with Birt-Hogg-Dube syndrome, though these have not thus far shown a clear association with the mutation of the
folliculin (FLCN) gene responsible for the syndrome.
identified the BHD gene, which codes a protein called
folliculin [3].
AAs regulate the intracellular localization and activation of mTORC1bythe lysosome-based signaling system composed of Ras-related GTPases (Rags) and Regulator v-ATPase, GAP activity towards Rags, and
folliculin complexes [59, 60].
The syndrome is caused by a deletion of the FLCN gene on chromosome 17 which encodes the protein
folliculin. The lung cysts are elongated and oval, closely associated with the peripheral interlobular septum, visceral pleura, or septal-pleural junctional region; the rupture of these cysts may result in pneumothoraces (Figure 8).