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Birt-Hogg-Dubé syndrome

Case contributed by Dr Luke Danaher

Presentation

Incidental finding of a left renal mass and cystic lung disease in a man presenting with atypical chest pain.

Patient Data

Age: 50 years
Gender: Male
X-ray

Pre and post operative chest xrays

Subtle hyperlucency of both lungs and peripheral left lower lobe bullae.

Post-operative hemopneumothorax likely secondary to underlying cystic lung disease.

Surgical clips in the left upper quadrant post nephrectomy.

CT

Pre and post nephrectomy CT abdomen and chest.

The first series of images shows a left-sided renal mass. The patient underwent a left partial nephrectomy (as seen on the other sequences). The mass proved to be a chromophobe RCC on histology.

Note the absence of renal angiomyolipomata.

Bilateral thin-walled lung cysts.

MRI

MRI brain

Normal MRI head.

No evidence of tuberous sclerosis.

No bony lesions.

Case Discussion

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.

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