Enchondromatosis
Updates to Article Attributes
Enchondromatosis, also known as Ollier disease, is a non-hereditary, sporadic, skeletal disorder characterised by multiple enchondromas that are principally located in the metaphyseal regions.
Terminology
Some authors make a distinction between Ollier disease and enchondromatosis on the basis of distribution. In the original description of Ollier disease, the enchondromas were predominantly confined to one side and limited to the limbs. As such, some authors prefer to use the term Ollier disease in cases where this distribution is present and use enchondromatosis or multiple enchondromatosis for cases where the distribution is more symmetric 5.
Epidemiology
Ollier disease is seen in both sexes without gender predilection and usually becomes apparent by early childhood 3-4. The condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations.
Clinical presentation
Clinical presentation is usually with deformity and pain (present only during periods of rapid growth) 3-4. If pain occurs when the child is older, this should raise the concern of malignant transformation or pathological fracture. If involvement of the lower limbs is significant, leg length discrepancy may occur.
Pathology
The aetiology of enchondromatosis has been associated with post-zygote state mutations during development. More interestingly, it has been reported that the PTHrP receptor has been implicated as a gene responsible for cases of enchondromatosis in patients with family history of mild skeletal dysplasia in their male parents.
Once the individual stops growing then in general, so do the enchondromas. If growth occurs then, this too is a sign of potential malignant transformation 4.
Associations
There is an increased risk of chondrosarcoma occurring later in life. The risk has been reported to be up to 25-30% at 40 years 1-2. Additionally, there is an increased risk of developing gliomas, pancreatic and juvenile granulosa cell tumours of the ovary 7, 8.
Occasionally patients will also be afflicted with multiple osteochondromas. This rare combination is known as metachondromatosis.
Distribution
They can occur anywhere but most frequently involve the short tubular bones of the hands and feet. Most patients have bilateral involvement but often significant asymmetry 4.
Radiographic features
Radiographs show multiple enchondromas. Larger lesions can show cartilage calcification in a typical rings and arcs pattern.
Vertical streaks of lucency also present in the metaphysis of long bones, extending to the epiphysis, which represents columns of cartilage.
For further discussion of appearances, please refer to the article on enchondromas.
Treatment and prognosis
The extent of disease is highly variable and thus so is the degree of impairment. If only a few bones are involved, then little if any handicap is present, although the affected bones do have a higher rate of fracture.
If there is extensive involvement, it might cause growth impairment, deformity (such as leg length discrepancy or Madelung deformity of the forearm), and functional impairment and these may require corrective surgery.
History and etymology
It is named after Louis Leopold Ollier, French surgeon.
Differential diagnosis
Imaging differential considerations include:
- Maffucci syndrome: presence of soft-tissue haemangiomas, heralded on plain films by phleboliths
- metachondromatosis: osteochondromas also present
- sarcoidosis: lace like phalanges
-<p><strong>Enchondromatosis</strong>, also known as <strong>Ollier disease</strong>, is a non-hereditary, sporadic, skeletal disorder characterised by multiple <a href="/articles/enchondroma">enchondromas</a> that are principally located in the metaphyseal regions.</p><h4>Terminology</h4><p>Some authors make a distinction between Ollier disease and enchondromatosis on the basis of distribution. In the original description of Ollier disease, the enchondromas were predominantly confined to one side and limited to the limbs. As such, some authors prefer to use the term Ollier disease in cases where this distribution is present and use enchondromatosis or multiple enchondromatosis for cases where the distribution is more symmetric <sup>5</sup>.</p><h4>Epidemiology</h4><p>Ollier disease is seen in both sexes without gender predilection and usually becomes apparent by early childhood <sup>3-4</sup>. The condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations.</p><h4>Clinical presentation</h4><p>Clinical presentation is usually with deformity and pain (present only during periods of rapid growth) <sup>3-4</sup>. If pain occurs when the child is older, this should raise the concern of malignant transformation or pathological fracture. If involvement of the lower limbs is significant, leg length discrepancy may occur.</p><h4>Pathology</h4><p>The aetiology of enchondromatosis has been associated with post-zygote state mutations during development. More interestingly, it has been reported that the PTHrP receptor has been implicated as a gene responsible for cases of enchondromatosis in patients with family history of mild skeletal dysplasia in their male parents.</p><p>Once the individual stops growing then in general, so do the enchondromas. If growth occurs then, this too is a sign of potential malignant transformation <sup>4</sup>.</p><h5>Associations</h5><p>There is an increased risk of <a href="/articles/chondrosarcoma">chondrosarcoma</a> occurring later in life. The risk has been reported to be up to 25-30% at 40 years <sup>1-2</sup>. Additionally, there is an increased risk of developing gliomas, <a href="/articles/pancreatic-neoplasms">pancreatic</a> and <a href="/articles/juvenile-granulosa-cell-tumour-of-the-ovary">juvenile granulosa cell tumours of the ovary</a> <sup>7, 8</sup>.</p><p>Occasionally patients will also be afflicted with multiple <a href="/articles/osteochondroma">osteochondromas</a>. This rare combination is known as <a href="/articles/metachondromatosis">metachondromatosis</a>.</p><h5>Distribution</h5><p>They can occur anywhere but most frequently involve the short tubular bones of the hands and feet. Most patients have bilateral involvement but often significant asymmetry <sup>4</sup>.</p><h4>Radiographic features</h4><p>Radiographs show multiple enchondromas. Larger lesions can show cartilage calcification in a typical <a href="/articles/rings-and-arcs-calcification">rings and arcs</a> pattern.</p><p>Vertical streaks of lucency also present in the metaphysis of long bones, extending to the epiphysis, which represents columns of cartilage. </p><p>For further discussion of appearances, please refer to the article on <a href="/articles/enchondroma">enchondromas</a>.</p><h4>Treatment and prognosis</h4><p>The extent of disease is highly variable and thus so is the degree of impairment. If only a few bones are involved, then little if any handicap is present, although the affected bones do have a higher rate of fracture.</p><p>If there is extensive involvement, it might cause growth impairment, deformity (such as leg length discrepancy or Madelung deformity of the forearm), and functional impairment and these may require corrective surgery. </p><h4>History and etymology</h4><p>It is named after <strong>Louis Leopold Ollier</strong>, French surgeon.</p><h4>Differential diagnosis</h4><p>Imaging differential considerations include:</p><ul>- +<p><strong>Enchondromatosis</strong>, also known as <strong>Ollier disease</strong>, is a non-hereditary, sporadic, skeletal disorder characterised by multiple <a href="/articles/enchondroma">enchondromas</a> that are principally located in the metaphyseal regions.</p><h4>Terminology</h4><p>Some authors make a distinction between Ollier disease and enchondromatosis on the basis of distribution. In the original description of Ollier disease, the enchondromas were predominantly confined to one side and limited to the limbs. As such, some authors prefer to use the term Ollier disease in cases where this distribution is present and use enchondromatosis or multiple enchondromatosis for cases where the distribution is more symmetric <sup>5</sup>.</p><h4>Epidemiology</h4><p>Ollier disease is seen in both sexes without gender predilection and usually becomes apparent by early childhood <sup>3-4</sup>. The condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations.</p><h4>Clinical presentation</h4><p>Clinical presentation is usually with deformity and pain (present only during periods of rapid growth) <sup>3-4</sup>. If pain occurs when the child is older, this should raise the concern of malignant transformation or pathological fracture. If involvement of the lower limbs is significant, leg length discrepancy may occur.</p><h4>Pathology</h4><p>The aetiology of enchondromatosis has been associated with post-zygote state mutations during development. More interestingly, it has been reported that the PTHrP receptor has been implicated as a gene responsible for cases of enchondromatosis in patients with family history of mild skeletal dysplasia in their male parents.</p><p>Once the individual stops growing then in general, so do the enchondromas. If growth occurs then, this too is a sign of potential malignant transformation <sup>4</sup>.</p><h5>Associations</h5><p>There is an increased risk of <a href="/articles/chondrosarcoma">chondrosarcoma</a> occurring later in life. The risk has been reported to be up to 25-30% at 40 years <sup>1-2</sup>. Additionally, there is an increased risk of developing gliomas, <a href="/articles/pancreatic-neoplasms">pancreatic</a> and <a href="/articles/juvenile-granulosa-cell-tumour-ovary">juvenile granulosa cell tumours of the ovary</a> <sup>7, 8</sup>.</p><p>Occasionally patients will also be afflicted with multiple <a href="/articles/osteochondroma">osteochondromas</a>. This rare combination is known as <a href="/articles/metachondromatosis">metachondromatosis</a>.</p><h5>Distribution</h5><p>They can occur anywhere but most frequently involve the short tubular bones of the hands and feet. Most patients have bilateral involvement but often significant asymmetry <sup>4</sup>.</p><h4>Radiographic features</h4><p>Radiographs show multiple enchondromas. Larger lesions can show cartilage calcification in a typical <a href="/articles/rings-and-arcs-calcification">rings and arcs</a> pattern.</p><p>Vertical streaks of lucency also present in the metaphysis of long bones, extending to the epiphysis, which represents columns of cartilage. </p><p>For further discussion of appearances, please refer to the article on <a href="/articles/enchondroma">enchondromas</a>.</p><h4>Treatment and prognosis</h4><p>The extent of disease is highly variable and thus so is the degree of impairment. If only a few bones are involved, then little if any handicap is present, although the affected bones do have a higher rate of fracture.</p><p>If there is extensive involvement, it might cause growth impairment, deformity (such as leg length discrepancy or Madelung deformity of the forearm), and functional impairment and these may require corrective surgery. </p><h4>History and etymology</h4><p>It is named after <strong>Louis Leopold Ollier</strong>, French surgeon.</p><h4>Differential diagnosis</h4><p>Imaging differential considerations include:</p><ul>
Image 9 X-ray (Frontal) ( create )
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