Manifestations of Ollier's disease in a 21-year-old man: a case report

INTRODUCTION: Ollier's disease is a rare nonhereditary disorder characterized by multiple enchondromas with a predilection for unilateral distribution. Malignant changes in Ollier's disease may occur in adult patients. Radionuclide bone scanning is one method used to assess lesions depicted on radiographs or magnetic resonance images that are presumed to be enchondromas. Also, a bone scan may give a clue to the multifocal nature of the disease and it has been recommended that scintigraphy is useful in the monitoring of lesions and the development of any malignant transformation. CASE PRESENTATION: A 21-year-old man with a history of pathologic fractures of the right tibia and multiple limb surgeries related to Ollier's disease was referred to our nuclear medicine department. Radiographic assessment showed multiple radiolucent expansile lesions, suggestive of multiple enchondromas. A whole-body bone ((99m)Tc-MDP) scan showed multiple foci of increased activity involving the proximal and distal right femur and tibia, proximal right humerus, distal right ulna, right metacarpals, metatarsals and phalyngeal tubular bones, consistent with unilateral distribution of the lesions. The long bones of the left hemi-skeleton were unremarkable, representing unilateral involvement of the skeleton. In this case, the intensity of uptake in the lesions of the lower extremity was high, raising the possibility of malignant degeneration of the enchondromas. Hence, the patient underwent surgical excision of the suspected lesions. Pathology analysis revealed their benign nature. CONCLUSION: Although the malignant transformation of enchondromas is a well known phenomenon, it should be kept in mind that other etiologies can be considered as the cause of intensely increased uptake. Retrospective assessment of our patient revealed that the etiology of increased uptake in the lower limb lesions was due to previous insufficiency fractures and the possibility of malignant transformation was ruled out based on the pathology findings.