Approximately 80-90% of patients with Birt-Hogg-Dubé (BHD) syndrome have lung cysts.rr BHD-associated lung cysts likely develop in early to mid-adulthood. In sporadic primary pneumothorax, lung cysts are typically found in the apical zones, while in BHD, the lung cysts are most often located in the basal regions.
As BHD-associated lung cysts generally do not affect lung function, there is currently no specific treatment or preventative measures.
The consequences of BHD-associated cystic lung disease appear worse in smokers. Smoking should be avoided.r
The documented lifetime risk for incident pneumothorax ranges between 29%r and 76%.r Ascertainment bias is suspected to account for this variation with rates expected to be underestimated when recruitment was through a dermatology clinic and overestimated when recruitment was through a respiratory clinic. Risk factors for pneumothorax in this population include family history of pneumothorax, past history of pneumothorax, presence of lung cysts, cyst size and volume. rr
The reported recurrence rate of pneumothorax in BHD varies from 30% - 80%.rr The management of BHD-associated pneumothorax is similar to that for the general population.
Facilitate patient education about the risk of future pneumothoraces. Refer to a respiratory physician prior to any high-risk activity e.g. scuba diving, high altitude mountain climbing.
Strongly recommend: medical alert bracelet, action plan for pneumothorax and avoid smoking.
Fibrofolliculomas, which are benign, are the most common skin manifestation occurring on the central face, neck and upper aspect of the trunk. They are present in the majority of BHD patients, and typically appear after age 20 years.r If no lesions are present at age 40, they are unlikely to develop. Multiple biopsies and careful sectioning are often required for correct diagnosis. Other skin lesions associated with BHD include angiofibromas, trichodiscomas, perifollicular fibromas, acrochordons and epidermoid cysts.
Currently available treatments only remove cutaneous lesions temporarily; at the present time there does not appear to be a treatment that works permanently.