TLDR Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
Birt–Hogg–Dubé (BHD) syndrome was a rare autosomal dominant disorder caused by mutations in the FLCN gene, leading to renal cysts and cancer, lung cysts, pneumothorax, and skin fibrofolliculomas. The Fourth Annual BHD meeting in 2012 highlighted the complex role of FLCN in mTOR signaling, with implications for treatment using mTOR inhibitors. Renal cancer, the most severe complication, affected 15% of patients by age 70, with MRI recommended for surveillance. Pulmonary manifestations included cysts and increased pneumothorax risk, while skin lesions appeared after age 20. Genetic and psychological counseling were essential for patients and at-risk relatives.
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.
47 citations,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
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.
47 citations,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
29 citations,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
4 citations,
January 2014 in “The Journal of urology/The journal of urology” Kidney cancer cells without folliculin are more sensitive to radiation due to increased self-eating cell death.
