Birt-Hogg-Dubé syndrome


Patient presented with atypical chest pain.  Subsequent CT of the chest and abdomen revealed a left renal mass suspicious for renal cell carcinoma.

Partial left nephrectomy was performed confirming a chromophobe renal cell carcinoma. Post-operative hemopneumothorax is likely due to underlying cystic lung disease and is often the presenting complaint.

The combination of chromophobe renal cell carcinoma, cystic lung disease, and subsequent family history established the diagnosis of Birt-Hogg-Dube syndrome.  This is yet to be confirmed with FLCN-mutation genetic testing.