Pulmonary pathology is well established in BHD and is often the presenting symptom. The new papers present here support the use of CT scans in BHD differential disgnosis.
Kilincer et al., 2014 report on three patients diagnosed with BHD following CT scans of the lungs that found multiple cysts located mainly in the lower regions of the lung. Two of these patients presented with spontaneous pneumothorax and on examination where found to also have fibrofolliculomas. In one of these patients subsequent investigation also identified renal cysts. The third patient presented with abdominal tenderness associated with a renal tumour and a diagnosis of BHD was considered as additional scans identified pulmonary cysts.
Auerbach et al., 2014 report a 28 year old male who presented with pneumothorax. A CT scan identified bilateral pulmonary cysts and as there was a family history of pneumothorax BHD was suspected; genetic screening confirmed the presence of a mutation in folliculin.
Ardilouze et al., 2015 report a 58 year old woman who presented with recurrent pneumothoraces and fibrofolliculomas. A CT scan confirmed the presence of pulmonary cysts, also seen on CT scans of her two children although there were no reported renal pathologies. A folliculin mutation was confirmed in the mother.
The authors of all these papers advocate for BHD to be included in the differential of those found to have multiple lung cysts on CT scans, especially if located in the lower lung. In addition a full family history with regards to pulmonary and renal pathologies should be taken to best determine treatment and further investigation options.