There is evidence that pulmonary cysts occur with nearly complete penetrance in BHDS.r Approximately 80-90% of patients with BHDS have lung cysts.rr BHDS-associated lung cysts likely develop in early-mid adulthood.r In sporadic primary pneumothorax, pulmonary cysts are typically found in the apical zones, while in BHDS, the lung cysts are most often located in the basal regions.
Consequences of BHDS-associated cystic lung disease appear worse in smokers.r
Facilitate patient education about the risk of future pneumothoraces. Refer to a respiratory physician prior to any high-risk activity e.g. scuba diving or high altitude mountain climbing.
The lifetime risk for incident pneumothorax to age 70 years is 29% (95% CI, 9-49%).r Risk factors for pneumothorax in this population include family history of pneumothorax,r past history of pneumothorax,r presence of lung cysts, cyst size and volume;r whereas age and smoking status have not been consistently found to be associated with pneumothorax.
Strongly recommend: medical alert bracelet, action plan for pneumothorax.
The reported recurrence rate of pneumothorax in patients with BHDS varies from 30%r-70%.r The management of BHDS-associated pneumothorax is similar to that for the general population.
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 BHDS patients, and typically appear after age 20 years. 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 BHDS include angiofibromas, trichodiscomas, perifollicular fibromas.r Patients with BHDS may also develop multiple epidermoid cysts.
Oral lesions have been reported, described as small, discrete mucosa-coloured or white papules on the lips, gingiva, tongue or buccal mucosa.r
Currently available treatments only remove cutaneous lesions temporarily; at the present time there does not appear to be a treatment that works permanently.