Birt-Hogg-Dubé syndrome

Case contributed by Liz Silverstone


Partial left nephrectomy for clear cell carcinoma 4 years ago. Cystic lung disease noted on follow-up. Mother also treated for renal carcinoma.

Patient Data

Age: 65 years
Gender: Female

Lower zone predominant multiple thin-walled lung cysts.

Many are based on the pleura, some lie along the fissures and some are paramediastinal. 

Prior partial nephrectomy left kidney.

Multiple renal cysts.

Case Discussion

BHDS diagnosed by genetic analysis, clinical and imaging features:

  • folliculin gene mutation confirmed
  • positive family history
  • this variant is associated with renal carcinoma
  • lung cysts typical of BHDS with lower zone predominance and some subpleural cysts. Sagittal view shows elongated cysts along the oblique fissure
  • cutaneous fibrofolliculomas

Other possible associations include renal cysts.

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