Maffucci Syndrome

Maffucci Syndrome

• nonhereditary 
• enchondromatosis combined with hemangiomas
• enchondromas in Maffucci syndrome carry a relatively high risk of malignant transformation 
• chondrosarcoma is the most common musculoskeletal malignancy 
• high risk of developing non musculoskeletal malignancies
• ovarian, pancreatic, gastrointestinal adenocarcinoma, glioma

Imaging Findings

• expansile metaphyseal lesions 
• sclerotic margins
• chondroid mineralization with "ring and arc" pattern that is typical of cartilage containing lesions
• increased signal intensity on T2W MR due to high water content of hyaline cartilage

REFERENCES

Flach HZ, Ginai AZ, Oosterhuis JW. Maffucci syndrome: radiologic and pathologic findings. Radiographics 2001;21:1311-16.