After adding the paper ‘Skin tumors as marker lesions for tumor syndromes’ by Mentzel et al (Pathologe. 2010 Oct;31(6):489-96) to the BHD Literature Database, I wondered how informative spontaneous pneumothorax incidences would be for BHD Syndrome.

BHD is generally though to be mis- or under-diagnosed because of the variability of its symptoms. However, more often than not, the majority of published case studies of BHD Syndrome come to be diagnosed either because of the occurrence of fibrofolliculomas or renal cancer, but you don’t often see this for the lung aspect of BHD. In a perfect world, I’m sure that well informed clinicians would recommend a FLCN gene test if presented with any combination of these symptoms, but we know that this is notalways the case in practice.

After searching the internet for related information I came across a Taiwanese trial that I thought could be interesting. The investigators aim to study the molecular pathogenesis of bleb formation in individuals who have sufferred a spontaneous pneumothorax. Additionally, resected blebs from these patients will be used for RNA and protein analyses (adjacent normal lung tissue will be used as a control for comparison).

Hypothetically,  individuals with undiagnosed  BHD Syndrome, could find themselves participating in this trial and I’d be interested to see if there were any difference in the underlying mechanisms of bleb formation in their lungs compared to BHD-negative cases.

Furthermore it would be interesting if the investigators could be persuaded to include a FLCN gene test as part of their trial!? More information about this trail can be found here.