TLDR Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
Birt–Hogg–Dubé Syndrome (BHD) was a rare autosomal-dominant condition caused by a mutation in the BHD gene on chromosome 17p, encoding folliculin (FLCN). The syndrome was characterized by benign skin tumors, spontaneous pneumothorax from lung cysts, and an increased risk of kidney tumors. This report detailed 3 new cases, emphasizing the importance of genetic analysis for accurate diagnosis due to clinical similarities with tuberous sclerosis complex. Correct diagnosis was crucial for patient management and could be life-saving.
72 citations,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
1 citations,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
January 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
