An index case of Birt Hogg Dube Syndrome

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