Radzikowska et al. (2016) report the case of a 54-year-old woman presenting with recurrent pneumothoraces and with recurrent pneumothoraces in her family history. A CT scan showed multiple cysts in the lower parts of both lungs. In addition, liver and renal cysts were revealed in the abdomen. Genetic analysis revealed a mutation in the FLCN gene (c.469_471delTTC(p.Phe157del)) confirming the diagnosis of BHD.
According to the authors, this is the first case of BHD reported in Poland.
This case study is freely available to download in the BHD Article Library: Clinical Research