Findings
The MRI demonstrates multiple, fairly homogeneous masses of the right hand which are expansile. They are intermediate to high on PD imaging and high on IR imaging. There are lobulated contours with subtle areas of low signal which become more prominent on the gradient echo images. The radiographs show multiple expansile lesions of the right hand which have become more expansile over the six year time frame. No other lesions are found throughout the remainder of the skeleton.
Diagnosis: Ollier’s Disease
Ollier’s disease is one of the variants of enchondromatosis. It is a non inherited disorder that is thought to be related to a mutation in the signaling of chondrocyte proliferation and differentiation. It typically presents with multiple, unilateral enchondroma which have a deforming architecture of the bone. At times, the enchondroma may be bilateral but typically predominate on one side. As seen in this example, the cartilage lesions on MRI are relatively high in signal on IR or T2 fat suppressed images with lobulated contours. Subtle areas of calcification in a ring and arc pattern can be seen as lower areas of signal that become more conspicuous on gradient imaging. A single enchondroma and often the enchondroma of Ollier’s are centrally located in the bone and may cause a slight expansion of the bone. In Ollier’s, the enchondroma as shown in the hand of this case can have an architecture of enchondroma protuberans.
Enchondroma protuberans in distinction to a typical enchondroma can cause a marked expansion of the bone as seen in this case. Expansion of the bone can cause a weakening of the bone and lead to pathologic fracture. The more feared complication of Ollier’s is malignant transformation. Although much more common in Ollier’s as compared to an isolated enchondroma, malignant transformation is not as frequent as in Maffucci syndrome (multiple enchondroma with soft tissue hemangioma). Enchondroma should not continue to grow after skeletal maturation and that is one indication of malignant transformation. The other findings of malignant transformation include deep endosteal scalloping, large lesions, prominent cortical thickening/periosteal reaction, and extension into the soft tissue.
References
Kristopher L. Foreman, Mark J. Kransdorf, Mary I. O’Connor, Murli Krishna. AIRP Best Cases in Radiologic-Pathologic Correlation: Maffucci Syndrome. RadioGraphics 2013 33:3, 861-868.
Sadiqi J, Rasouly N, Hamidi H, Siraj S. Radiographic features of Ollier's disease - two case reports. BMC Med Imaging. 2017 Dec 2;17(1):58. doi: 10.1186/s12880-017-0230-8. PMID: 29197346; PMCID: PMC5712181.