Review Question - QID 218961

This patient has multiple enchondromas within his hands, consistent with Ollier disease; these patients have an associated 10-30% risk of malignant transformation to chondrosarcoma.

Ollier disease is diagnosed when multiple enchondromas are identified without soft tissue angiomas. The multiple enchondromas cause issues with normal endochondral ossification and are usually seen throughout the metaphysis and diaphysis of the long bones in the appendicular skeleton, most commonly in the hands. They are associated with deformity and may affect extremity function. The risk for malignant transformation to chondrosarcoma exists but is <30%; this contrasts starkly with Maffucci's syndrome, where there is a very high risk of developing a visceral malignancy (approximately 100%).

El Abiad et al. described the natural history of both Ollier's and Maffucci's syndromes. They note that both disorders include swollen, deformed extremities, with limitations in joint mobility, pain, and loss of function. They point out that patients with Ollier disease are often diagnosed at a younger age, and the risk of transformation to chondrosarcoma is between 10-30%.

Cannon and Sweetnam presented a case report of Ollier's disease in which multiple chondrosarcomas developed. In this presentation, the patient discussed had four different primary chondrosarcomas in 11 years that developed due to his pre-existing Ollier disease. They note that the four primary chondrosarcomas which developed in this patient were more than any other previously described patient with Ollier's disease.

Figure A demonstrates bilateral hand radiographs with diffuse enchondromas representative of Ollier disease.

Incorrect Answers:
Answer 1: McCune-Albright syndrome, which includes fibrous dysplasia and endocrinopathies, is associated with a mutation in the GNAS gene. Ollier disease is not always inherited but can be attributable to a mutation in the isocitrate dehydrogenase (IDH) gene.
Answers 2 & 3: Both angiomas and a high risk for visceral malignancy are associated with Maffucci syndrome, which also has multiple enchondromas.
Answer 5: Bone infarcts present with a "smoke up the chimney" appearance on radiographs without a high T2 signal, while enchondromas have a high signal on T2 due to their high water content.