Johannesma et al. comment on the recent study by Fabre et al. 2013, that showed radiological and histopathological differences between cystic lung changes caused by smoking and BHD (discussed in a recent blog post). Johannesma et al. point out that in this study the control cohort were not tested for a FLCN mutation, which is the only conclusive way to diagnose BHD. Johannesma et al. also point out that the pattern of TTF1 staining in the control cohort is not clearly described, and that there is no evidence that female BHD patients are at increased risk of spontaneous pneumothorax than male patients. Johannesma et al. agree with the assertion that pathologists should be aware of alternative causes of spontaneous pneumothorax, particularly in non-smokers, but state that the findings of the original Fabre et al. study need to be extended before clinicians change their diagnostic approach.
Haas and Nathanson review the characteristics of hereditary kidney cancer, including BHD, VHL, TSC and HLRCC.
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