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Virtual Pediatric Hospital: Paediapaedia: Enchondromatosis Paediapaedia: Musculoskeletal Diseases


Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed

Clinical Presentation:
Can have asymmetric limb shortening, defective articulation and swelling of the fingers and toes. The enchondromata are asymptomatic unless a pathologic fracture occurs.

Multiple nests or streaks of disorganized cartilage cells probably representing persistence of cortical cartilage that was not transformed into osteoblasts and compact bone. The combination of enchondromatosis and multiple hemangiomas is known as Maffuci's Syndrome.They stop forming at puberty, and from then on there is remodeling and replacement of the cartilaginous lesions with bone. Patients can frequently be left with asymmetric limbs.

Not applicable

Imaging Findings:
Radiolucent metaphyseal defects are seen in tubular or flat bones. The masses expand asymmetrically with thinning of cortex over the affected area. In later stages of the disease the lesions are more frequently linear or striated.


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