In December, the Journal of the American Medical Association (JAMA) Clinical Challenge described a case of BHD (Felton and Madan, 2012). In this article, the authors state that there are currently no clinical guidelines regarding the age or frequency at which to screen for renal cancer in BHD and that the best work up to perform is renal tract ultrasound.
Perdeaux and Solly, of the Myrovlytis Trust, wrote a letter, published this week in JAMA, pointing out that CT and MRI can detect smaller lesions than ultrasound and that the European BHD Consortium recommends annual MRI scans are undertaken from the age of 20 years (Menko et al., 2009). We also point out that currently no symptoms in addition to fibrofolliculomas, lung cysts and renal cell carcinoma are currently associated with the disease, contrary to a statement in the original article listing a number of other symptoms.
Our letter and a reply from Felton and Madan can be found here.