Fact-sheet: Enchondromatosis
Updated on 04/23/2019 at 9:51 AM
View all RADEOS cases associated with this fact-sheet
Definition
Multiple enchondromatosis.
A rare, non-hereditary osteochondrodysplasia characterized by metaphyseal, diaphyseal, or epiphyseal development of enchondromas.
Clinical features
Diagnosis often made before age 20.
Cavernous hemangiomas in Maffucci syndrome
Radiography
Enchondromas: osteolytic lesions with ring-and-arc or popcorn-like calcifications, without periosteal reaction.
There is endosteal scalloping of the overlying cortex with a certain degree of cortical thinning or cortical expansion.
There is typically no cortical thickening or periosteal reaction.
25-30% sarcomatous degeneration in Ollier disease, and near-systematic degeneration in Maffucci syndrome.
Ultrasound
CT
Imaging features similar to those seen on radiography.
Allows better characterization of intratumoral calcifications and endosteal scalloping (<2/3 of cortical thickness on axial images).
Endosteal extension >2/3 of the lesion in both the axial and longitudinal planes should raise concern for chondrosarcomatous transformation.
Nuclear medicine
18FDG PET/CT may help distinguish enchondroma from low-grade chondrosarcoma, as enchondromas show less pronounced radiotracer uptake.
Classification
Polyostotic forms:
- Ollier disease = generalized hemimelic form predominantly affecting the long bones of the hands and feet
- Maffucci syndrome = multiple enchondromas + cutaneous hemangiomas.
Monostotic form.
Differential diagnosis
Grade I chondrosarcoma