Patient presented to orthopaedic outpatients for routine follow up of skeletal disorder.
Patient with known Ollier’s disease initially presented at the age of 5 years with painless, expansile deformity of the hands. Imaging showed multiple enchondromas - multiple assymetrically distributed, intraosseous cartilagenous foci. Routine follow up was performed with plain radiography.
Ollier’s disease is a nonhereditary disorder of mesodermal dysplasia presenting in early childhood, characterized by multiple enchondromas. These are seen in the tubular and flat bones and are most commonly seen in the femur, tibia and hands in an assymetrical distribution. In the hands presentation is of painless round, lucent lesions causing expansion of the bone with cortical thinning, endosteal scalloping and focal stippled areas of calcification. In the long bones presentation is with asymmetric limb shortening due to impairment of epiphyseal fusion; genu deformity, Madelung deformity and bowing deformities. The lesions do not increase in size after cessation of normal growth. Complications include pathological fractures, mechanical complications and malignant transformation to chondrosarcoma, which can occur in up to 25% of patients by the age of 40. Malignant transformation to chondrosarcoma rarely occurs in the early decades of life. Chondrosarcoma secondary to multiple echondromatosis primarily affect the pelvis, shoulder girdle, distal femur and proximal tibia. Chondrosarcomas of the hand and feet are very rare but cases have been reported. Clinically malignant change should be suspected when there is an abnormal continued growth of a lesion; pain, swelling and imaging findings of growth in a previously stable lesion, new bony erosion and new/increasing calcification. Intramedullary chondrosarcomas are more likely to show cortical remodelling, cortical thickening and destruction, periosteal reaction, and soft tissue extension. CT can be of value of investigation where there is difficulty in investigating involvement i.e skull base and vertebrae. On MRI lesions are of low signal intensity on T1 weighted images and high signal on T2 weighted with some foci of low signal due to mineralizaion/fibrous septae. Maffuci syndrome is a nonhereditary enchondromatosis with multiple soft tissue haemangiomas. It presents later, usually after puberty and has a much higher incidence of malignant transformation.
Ollier's disease
Based on the provided series of X-ray images (including the hand, pelvis, and femur in anteroposterior and lateral views), the main observations are as follows:
Taking into account the patient’s medical history (multiple skeletal lesions, refractive follow-up) and the radiographic features, the following conditions are considered:
Considering the patient’s gender, age (27 years), the presence of multiple skeletal lesions, asymmetric distributions, and typical X-ray appearances, the most likely diagnosis is:
Ollier Disease (Multiple Enchondromatosis).
At present, there is no imaging evidence of malignant transformation (chondrosarcoma). However, due to the potential risk of malignancy, regular follow-up is recommended to monitor any lesion growth, bone pain, cortical destruction, or soft tissue expansion.
For patients with Ollier Disease, treatment mainly depends on clinical symptoms and whether there is functional impairment or suspicion of malignant degeneration.
FITT-VP Principle Reference:
The above report is a reference analysis based on current imaging and clinical information. It does not substitute for an in-person consultation with a healthcare professional. If you have any questions or if your condition changes, please seek advice from an orthopedic specialist promptly.
Ollier's disease
