Case: 250

Birt-Hogg-Dube Syndrome

Show  

History: 51 yo male. Evaluate renal mass
Solution: This patient has a complex cystic left renal mass that is concerning for renal cell carcinoma. In addition, he has bilateral pulmonary cysts. This combination of findings is concerning for the possibility of Birt-Hogg-Dube Syndrome. These patients with also have skin findings, specifically fibrofolliculomas, and will often have a history of spontaneous pneumothorax. They can also have oncocytomas in the kidney as well as RCC.

CT Images

Questions

This patient is likely to have manifestations in all of the following organs EXCEPT:
  • Kidneys
  • Skin
  • Lungs
  • Brain
This is likely to be a genetic disorder.
True
What is the most likely diagnosis?
Birt-Hogg-Dube Syndrome.