Birt-Hogg-Dube syndrome

Case contributed by Dr Liz Silverstone

Presentation

Cutaneous fibrofolliculomas. Previous VATS pleurodesis for recurrent pneumothorax.

Patient Data

Age: 50 years
Gender: Female
CT

Several thin-walled lung cysts with varying shapes and lower zone predominant. Several are immediately subpleural: peripheral or along the fissures.

Case Discussion

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.

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Case information

rID: 70101
Published: 3rd Jun 2021
Last edited: 5th Jun 2021
System: Chest
Inclusion in quiz mode: Excluded
Institution: St Vincent's Hospital Sydney

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