New BHD diagnosis in BMJ Case Reports

This week in BMJ case reports Menzies et al., 2016 reported the identification of a BHD patients who presented with dermatological manifestations. A punch biopsy confirmed angiofibromas and subsequent genetic testing identified a mutation in the FLCN gene. Subsequent screening identified a benign renal cyst, but no pulmonary cysts, and the patient will be monitored for further renal growths. Menzies et al. highlight the role dermatologists can play in the early identification of patients at risk of malignancies.

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