Your Resource for Birt-Hogg-Dubé Syndrome
As discussed on this blog previously, developing histological screening techniques for renal cell carcinomas (RCCs) associated with BHD is important for early diagnosis. Individuals with folliculin (FLCN) mutations are more likely to develop multiple bilateral renal tumours (Zbar et al., 2002, Pavlovich et al., 2002). A misdiagnosis of sporadic RCC may compromise future treatment and … Read more
There are over 6000 rare diseases known worldwide. Whilst individually these diseases only affect a small number of people it is estimated that, assessed cumulatively, 1 in 17 people will be affected by a rare disease in their lifetime. To raise awareness of these diseases, every year since 2008, at the end of February there … Read more
Due to mutations in their folliculin (FLCN) gene Birt-Hogg-Dubé (BHD) syndrome patients have a greater risk of developing renal cell carcinomas (RCC) than others (Zbar et al., 2002, Houweling et al., 2011). Unlike sporadic cases of RCC, where the majority are classified as clear cell RCC (ccRCC), studies of FLCN-related tumours have found that the … Read more
When BHD was first described in 1977 it was based on the presence of characteristic skin lumps (Birt et al., 1977). In addition BHD is now known to be associated with increased risk of renal cancer, the development of lung cysts and an associated increased risk in pneumothorax. In 2002, the association of BHD with … Read more