Note | Clinical behaviour is determined by size, number, location and evolution of enchondromas, age of onset and of diagnosis. The diagnosis is mainly based on clinical, histological and radiological evaluation. Usually enchondromas are asymptomatic but in case of symptomatic enchondromas (pain, increase in size), further investigations could be indicated. The clinical features of enchondromatosis depend upon the extent of disease and ranges from few small lesions to multiple, widely distributed lesions causing marked skeletal deformation. Microscopically, the lesions can be more cellular and cytologically atypical as compared to solitary enchondroma. Macroscopic examination of enchondromas shows marked expansion and cortical attenuation in large bones. Radiographically, the lesions of enchondromatosis typically show multiple, radiolucent or mineralized homogeneous well defined lesions with oval or elongated shape. |
Phenotype and clinics | There are several cases reported in which disease is limited to multifocal involvement of a single bone while in other cases wide spread lesions and crippling deformation can be observed. The common site for development of enchondromas includes hand, foot, femur, humerus and forearm bones. Sometimes in case of severe condition, flat bones are also affected. |
Neoplastic risk | There is an increased risk of development of malignant tumors. In Ollier disease and Maffucci syndrome 25-30% of cases undergo malignant transformation. |
Treatment | Treatment depends on the type of enchondromatosis; it may include surgery, amputation, bone grafting and sclerotherapy. |
Prognosis | The prognosis is dependent on the extent and severity of the disease. Cortical erosion, pathological fracture and extension of the tumor into soft tissues can be considered as a sign of malignancy. |
Pathological fractures, a consideration with metachondromatosis and differential diagnoses: Osteochondromatosis and Gauchers Disease. |
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