She is folliculin mutation positive. Her 25 year-old twin daughters also have typical lung cysts.

Birt-Hogg-Dube syndrome is an autosomal dominant mutation with characteristic skin manifestions. Lung cysts are common and are frequently complicated by recurrent pneumothorax, typically provoked by an airline flight.

Renal tumors can be multifocal and bilateral, occurring in approximately one third of cases and the most common histology is chromophobe/oncocytoma hybrid. Lifelong 3 yearly screening by MRI is recommended.

None of the family have renal tumors to date.