New BHD diagnosis based on dermatology and history

A new BHD case study from Ge and Lowe (2016) describes a 52 year old male with numerous dermatological papules. Based on biopsy results and a history of pneumothoraces BHD was suspected; genetic testing identified a missense mutation in his FLCN gene. A renal ultrasound identified a tumour on his left kidney which was determined, after removal, to be a hybrid oncocytoma chromophobe tumour (HOCT). Ge and Lowe also briefly summarise the clinical presentation and diagnostic criteria for BHD before stressing the importance of early detection by dermatologists.

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