General characteristics of the disease
Multiple enchondromatosis is an orphan (rare) pathology whose main manifestation is the growth of numerous cartilaginous lesions inside the bone tissue. Although theoretically these changes can affect any part of the skeleton, the long tubular bones are recognized as the most typical localization. The uncontrolled growth of multiple tumors does not pass without consequences: as the process progresses, it leads to noticeable anatomical deformation of the affected bones. In clinical practice, two main subtypes of this disease are distinguished, differing in the presence or absence of extraskeletal manifestations, as well as the spectrum of associated oncological risks.
Ollier disease (Ollier disease)
Ollier disease is the first and most well-known variant of multiple enchondromatosis. The main distinguishing feature of this subtype is that the pathological process is strictly localized and limited exclusively to the bone tissue. Such patients have no vascular or other soft tissue anomalies.
Despite the benign nature of the enchondromas themselves, the disease requires careful and continuous monitoring due to the high oncological risk. The probability of malignant transformation of cartilaginous foci (malignancy with the development of chondrosarcoma) in Ollier disease is highly variable and estimated by specialists in a wide range — from 5% to 30%.
Maffucci syndrome (Maffucci syndrome)
Maffucci syndrome is a more complex, severe, and rare variant of multiple enchondromatosis. In this syndrome, typical bone cartilage lesions are obligately combined with vascular malformations.
Key features of Maffucci syndrome include:
- Presence of multiple soft tissue hemangiomas, which are clearly visualized on magnetic resonance imaging (MRI).
- In rarer cases, patients may develop lymphangiomas.
- Plain radiographs in the projection of soft tissue hemangiomas often reveal characteristic shadows — phleboliths (calcified venous thrombi).
- The risk of chondrosarcomatous changes (malignant transformation of bone lesions) reaches approximately 20%. As a rule, malignancy occurs in older patients — over 40 years of age. It is important to emphasize that the true incidence of transformation remains ultimately unknown due to the extreme rarity of the pathology itself.
- Patients with this syndrome show a reliably increased incidence of completely different, non-bone-related tumors. In particular, there is a high risk of pancreatic carcinoma and brain gliomas.
Radiological variants of individual enchondromas and differential diagnosis
Although lesions are multiple in enchondromatosis, to understand the general picture, it is useful to know what isolated forms of enchondromas (Enchondroma) look like. Several variants are distinguished in diagnostic imaging:
- Typical form — visualized as a well-defined lytic lesion (e.g., in a metatarsal bone).
- Protruding enchondroma (Enchondroma protuberans) — a heavily mineralized lesion capable of extending through the cortical layer (frequent localization — phalanges of the fingers).
- Endosteal enchondroma (Endosteal enchondroma) — an eccentrically located lesion in the bone that causes characteristic expansion of the cortical layer (typical example — involvement of the medial femoral condyle).
For the differential diagnosis of cartilaginous tumors, MRI data are extremely critical. For example, when examining chondral tumors in T2 FSE and STIR sequences, a large lobular mass is often identified within the bone marrow cavity. It may cause moderate endosteal scalloping and thinning of the cortical layer. A crucial sign of cartilage tumor matrix mineralization is punctate signal voids on MRI. Meanwhile, in periosteal chondroma (Periosteal Chondroma), the lesion on MRI (in STIR sequence) shows a predominantly hyperintense signal with areas of low intensity that precisely correspond to zones of internal calcification.
Briefly: answers to topical questions
Which bone pathologies must be differentiated from enchondroma?
Differential diagnosis of enchondroma must primarily be carried out with malignant cartilaginous tumors. According to the WHO classification, the main conditions to differentiate are:
- Atypical cartilaginous tumour (Atypical cartilaginous tumour) / grade 1 chondrosarcoma.
- Chondrosarcoma grade 2 and 3 (Chondrosarcoma grade 2, 3).
- Low-grade chondrosarcoma (Low-grade chondrosarcoma).
To accurately distinguish a benign enchondroma from chondrosarcoma, the size of the lesion, depth of endosteal scalloping, presence of pain syndrome, cortical destruction, and soft tissue extension of the tumor are evaluated.
Which imaging features indicate malignant transformation of an enchondroma into chondrosarcoma?
Malignant transformation of an enchondroma into chondrosarcoma is indicated by a number of specific imaging features. The main criteria include:
- Large lesion size — chondrosarcomas are typically larger (average length 8 cm) than enchondromas (average length 5 cm).
- Deep endosteal scalloping (deep endosteal scalloping) — erosion of more than 2/3 of the cortical thickness.
- Cortical destruction (cortical destruction).
- Soft tissue extension (soft tissue extension).
The presence of deep endosteal scalloping, clearly visible on axial T2-weighted fat-suppressed images, is a suspicious finding and warrants consideration for biopsy.
“Ollier — Confined to bone. Maffucci — Soft tissues (hemangiomas).” This basic rule helps instantly differentiate the two main enchondromatosis subtypes on the exam.
Class and exam questions
What is the main difference between Ollier disease and Maffucci syndrome?
In Ollier disease, lesions are restricted exclusively to bone tissue. In Maffucci syndrome, bone cartilage lesions are invariably combined with soft tissue hemangiomas and, somewhat less commonly, lymphangiomas.
How high is the risk of malignant transformation in these diseases?
In Ollier disease, the risk of malignancy ranges from 5% to 30%. In Maffucci syndrome, the risk of chondrosarcomatous changes is about 20%, and most frequently occurs in patients over 40 years of age.
What other oncological risks are associated with Maffucci syndrome?
In addition to the high risk of developing chondrosarcoma, patients with Maffucci syndrome show an increased incidence of other neoplasms, notably pancreatic carcinoma and gliomas.
What does cartilage tumor matrix mineralization look like on MRI?
The process of matrix mineralization in cartilaginous neoplasms appears on MRI scans as characteristic punctate signal voids (low-intensity zones) against the background of a hyperintense lesion.
What else to study on this topic
- Osteochondroma: radiological features and typical complications (impingement, bursitis)
- Diaphyseal aclasis and vascular complications (popliteal artery pseudoaneurysm)
- Chondroblastoma: epidemiology, localization, and criteria for atypical presentation
- Periosteal chondroma: differential imaging diagnosis of superficial bone lesions
- MRI semiotics of low-grade chondral tumors
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