Birt-Hogg-Dubé syndrome


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.