An index case of Birt Hogg Dube Syndrome

Abstract

A 46 year old lady presented to her general practitioner with recurrent urinary tract infections. She was subsequently diagnosed with a left sided exophytic renal tumour. Subsequent nephrectomy revealed a oncocytic renal tumour which raised a clinical concern for the hereditary syndrome of Birt Hogg Dube Syndrome (BHDS). The only family history of note was a cousin who has a history of renal cysts. Tumour genomic testing revealed somatic mutation in the folliculin gene. This was later confirmed as a germline mutation. Subsequent review of her pedigree discovered skin lesions suspicious for fibrofolliculomas in her father and brother. This history in conjunction with the germline testing confirmed a diagnosis of BHDS. BHDS is a rare hereditary syndrome characterised by fibrofolliculomas, spontaneous pneumothoraces, and renal neoplasms. Diagnosis and clinical management of these patients can be challenging requiring multidisciplinary input from respiratory physicians, urological surgeons and cancer geneticists.

Keywords

• Renal cell carcinoma
• Hereditary cancer