The Radiology journal contains a “Diagnosis Please” section where a clinical case is presented and readers are invited to submit a likely diagnosis. Case 218 (first published in February 2015), submitted by Zamora et al (2015), featured a 53 year old man admitted with localised abdominal pain and history of pneumothoraces and flesh-coloured papules on the head and neck. Contract CT revealed the presence of multiple irregular-shaped cysts in the lungs and masses in the gluteal muscles, right kidney and colon.
Based on this case study 171 individuals and 12 resident groups correctly submitted BHD as the most likely diagnosis. However no mention of genetic testing is described to confirm the diagnosis. In the full article Zamora et al reveal that the renal mass was confirmed to be a clear cell renal cell carcinoma and the colon mass determined to be a colonic sarcoma. Colonic cancer, although not definitively linked to mutation in FLCN, is a pathology previously described in other BHD patients. More details regarding the differential diagnosis can be found in the article.