Positive diagnosis of any disease, common or rare, is essential an essential step and a logical precursor to successful treatment or clinical management. In the case of rare diseases like BHD Syndrome, recognising that you may have developed a symptom is made more difficult by lack of awareness of BHD Syndrome by both the general public and the medical community. By now regular readers of this blog and www.bhdsyndrome.org will know that BHD Syndrome predisposes to a triad of symptoms: fibrofolliculomas, pneumothorax and renal cancer.
However, a recent paper by Maffe et al, in Clinical Genetics presents the results of a clinical study of unrelated individuals presenting with the non-dermatological symptoms of BHD Syndrome, and amongst its conclusion the authors state that ‘parotid oncocytomas should be considered as a BHDS component manifestation, in addition to cutaneous, kidney, and pulmonary lesions’ because of its frequency amongst the cohort studied. Other symptoms associated with BHD Syndrome have been discussed in the literature and can be found summarised here. I think clinically, an awareness of all the relevant symptoms is essential for a timely diagnosis of BHD Syndrome.