Pathology - FLCN gene mutation analysis
What are the helpful CT features in diagnosing cystic lung disease in this case?
Multiple lower zone predominant cysts with a predilection for subpleural lung.
BHD is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin, which is considered to be a tumour suppressor gene.