Birt Hogg Dube syndrome

Case contributed by Liz Silverstone


Recurrent pneumothoraces

Patient Data

Age: 65 years
Gender: Female

Multiple lower zone predominant thin-walled cysts of varying size, many of which abut the pleura, particularly the paramediastinal pleura.

MinIPs and 'emphysema' measurements


MinIPs are more sensitive for cyst detection, compared to MPRs.

The 'emphysema' measurements typically show a gradual increase in cyst volume over the years.

FLCN gene mutation analysis


BHD is a rare inherited autosomal dominant disorder caused by germline mutations in the tumor suppressor gene FLCN, encoding the protein folliculin, which is considered to be a tumor suppressor gene.

Case Discussion

Recurrent pneumothoraces are typical of this condition. They can occur at any time, particularly with changes in pressure, e.g. during an airline flight or diving. Treatment is by pleurodesis. Otherwise, there is usually no significant impairment of lung function. Cysts appear and slowly enlarge over time and are most obvious on MinIP slabs. BDH should be considered in the differential diagnosis of pneumothorax, especially if recurrent, or with a positive family history.

Fibrofolliculomas are the most typical skin lesions.

The lifetime occurrence of renal tumors is about 30%, and these can be multiple and recurrent. Hybrid oncocytoma/chromophobe renal cell carcinoma is typical, but histology varies. The incidence of renal tumors varies between families and the surveillance interval can be annually or up to 4-yearly from the age of 20 years depending on probability. MR is the optimal modality.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.