Birt-Hogg-Dubé syndrome

Case contributed by Miranda Siemienowicz

Presentation

Initial presentation with spontaneous pneumothorax. Cystic lung disease discovered on work-up.

Patient Data

Age: 40 years
Gender: Female
ct

Scattered lung cysts, many with a lentiform appearance. These are most numerous in the lower zones, particularly the middle lobe.

Case Discussion

The etiology in this case was confirmed with genetic testing.

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