Mafucci Syndrome

  • Sporadic, PTH/PTHrP type I receptor
  • Venous malformations (superficial/deep) of hands/feet, benign endochondromas (benign cartilaginous tumor), ↑ risk of chondrosarcomas within endochondromas and other less common sarcomas; angiosarcomas usually fatal
   
 
MafuCCI – Cartilaginous tumor (endochrondroma), Chondrosarcoma