The development of characteristic fibrofolliculomas and trichodiscomas can be the first noticeable presentation of BHD in patients. A new paper from Aivaz et al., (2015) reports on four case studies of additional comedonal and cystic fibrofolliculomas in BHD patients. The development of multiple comedones is associated with a number of genetic conditions and acquired conditions. Aivaz et al., stress the case for BHD to be included in differential diagnoses of open comedones based on the advantages of an early BHD diagnosis; the increased risk of spontaneous pneumothorax and renal cell carcinoma in BHD patients can impact on health surveillance and any subsequent treatments.
Although mutations in the FLCN gene were only confirmed in two of these patients, the remaining two received a clinical diagnosis of BHD based on the presence of more than five adult-onset fibrofolliculomas with histological confirmation (Menko et al., 2008).