Melorheostosis
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- updated 15 Mar 2023:
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Melorheostosis, also known as Leri disease, is an uncommon mesenchymal dysplasia manifesting as regions of sclerosing bone with a characteristic dripping wax appearance(a.k.a. flowing candle wax appearance).
Epidemiology
Although changes occur in early childhood, age at presentation is often later, and the condition often remains occult until late adolescence or early adulthood. In only approximately half of the cases is the diagnosis made before the age of 20 2.
There is no recognised familial predisposition 3.
Associations
- sclerodermic skin changes:
thickeningthickening and fibrosis of overlying skin - hyperpigmentation of overlying skin 4
- muscle atrophy
- vascular tumours and malformations
- other tumours, e.g.osteosarcoma,malignant fibrous histiocytoma4
- Buschke-Ollendorff syndrome
Clinical presentation
The condition, especially in childhood, is usually asymptomatic, being diagnosed as an incidental finding on radiographs obtained for another purpose 1,3. When melorheostosis does manifest clinically, the most common presentation is of joint contracture or pain, which are more common in adults 3.
Pathology
Distribution
Melorheostosis can be either monostotic or or polyostotic and tends to be monomelic. It has a predilection for long bones of the limbs, although it can be seen almost anywhere. Hands and feet are not infrequently involved whereas involvement of the axial skeleton is rare 1,2. The condition has a tendency to give a sclerotome distribution. Uncommonly, it can present with a mineralised peri-articular mass.
Radiographic features
Plain radiograph
Radiographs are considered sufficient for establishing the diagnosis.
Five patterns have been described 1:
- classic
- periosteal cortical thickening is characteristic, but endosteal thickening is also seen in many cases, especially when the age of onset is in adolescence, where it may be purely endosteal 5
- thick undulating ridges of bone, reminiscent of molten wax (dripping wax appearance
oror flowing candle wax appearance) - confined to sclerotomes, and can be seen apparently flowing across joints to the next bone
- osteoma-like
- myositis ossificans-like
- osteopathia striata-like
- mixed
Not infrequently features of melorheostosis, osteopathia striata and osteopoikilosis may co-exist in a so-called overlap syndrome, termed termed mixed sclerosing bone dysplasia. These conditions may share an underlying aetiology (loss of function mutations in the LEMD3 gene)1.
MRI
Usually, the lesions show low signal on all imaging sequences, with no enhancement.
Nuclear medicine
An increase in radiotracer uptake is usually present on late phase bone scans 2.
Treatment and prognosis
The disease is of variable severity, but in general follows a chronic progressive course in adults and a faster course in children, occasionally resulting in substantial disability from contractures or deformity.
Conservative management is often unrewarding, and in severe cases, surgical intervention may be required, including tendon release, osteotomies and even amputation 1-3.
History and etymology
The condition was first written up in the literature by the French neurologist Andre Leri (1875-1930) 7 and J Joanny in 1922 6.
The name is derived from the Ancient Greek words for limb (melos) and flow (rhe), due to its characteristic appearance of flowing hyperostosis 1,3.
Differential diagnosis
Possible considerations include
-<p><strong>Melorheostosis</strong>, also known as<strong> Leri disease</strong>, is an uncommon mesenchymal dysplasia manifesting as regions of sclerosing bone with a characteristic <a href="/articles/dripping-candle-wax-sign-melorheostosis">dripping wax appearance</a> (a.k.a. <strong>flowing candle wax appearance</strong>). </p><h4>Epidemiology</h4><p>Although changes occur in early childhood, age at presentation is often later, and the condition often remains occult until late adolescence or early adulthood. In only approximately half of the cases is the diagnosis made before the age of 20 <sup>2</sup>.</p><p>There is no recognised familial predisposition <sup>3</sup>.</p><h5>Associations </h5><ul>-<li>sclerodermic skin changes: thickening and fibrosis of overlying skin</li>-<li>hyperpigmentation of overlying skin <sup>4</sup>-</li>-<li><a href="/articles/sarcopenia">muscle atrophy</a></li>-<li>vascular tumours and malformations</li>-<li>other tumours, e.g. <a href="/articles/osteosarcoma">osteosarcoma</a>, <a href="/articles/undifferentiated-pleomorphic-sarcoma-1">malignant fibrous histiocytoma</a> <sup>4</sup>-</li>-<li><a href="/articles/buschke-ollendorff-syndrome">Buschke-Ollendorff syndrome</a></li>-</ul><h4>Clinical presentation</h4><p>The condition, especially in childhood, is usually asymptomatic, being diagnosed as an incidental finding on radiographs obtained for another purpose <sup>1,3</sup>. When melorheostosis does manifest clinically, the most common presentation is of joint contracture or pain, which are more common in adults <sup>3</sup>. </p><h4>Pathology</h4><h5>Distribution</h5><p>Melorheostosis can be either <a href="/articles/monostotic">monostotic</a> or <a href="/articles/polyostotic">polyostotic</a> and tends to be <a href="/articles/monomelic">monomeli</a><a href="/articles/monomelic">c</a>. It has a predilection for long bones of the limbs, although it can be seen almost anywhere. Hands and feet are not infrequently involved whereas involvement of the axial skeleton is rare <sup>1,2</sup>. The condition has a tendency to give a <a href="/articles/sclerotome">sclerotome</a> distribution. Uncommonly, it can present with a mineralised peri-articular mass.</p><h4>Radiographic features</h4><h5>Plain radiograph</h5><p>Radiographs are considered sufficient for establishing the diagnosis.</p><p>Five patterns have been described <sup>1</sup>:</p><ul>-<li>classic<ul>-<li>periosteal cortical thickening is characteristic, but endosteal thickening is also seen in many cases, especially when the age of onset is in adolescence, where it may be purely endosteal <sup>5</sup>-</li>-<li>thick undulating ridges of bone, reminiscent of molten wax (<a href="/articles/dripping-candle-wax-sign-melorheostosis">dripping wax appearance</a> or <a href="/articles/dripping-candle-wax-sign-melorheostosis">flowing candle wax appearance</a>)</li>-<li>confined to sclerotomes, and can be seen apparently flowing across joints to the next bone</li>-</ul>-</li>-<li>-<a href="/articles/osteoma">osteoma</a>-like</li>-<li>-<a href="/articles/myositis-ossificans-1">myositis ossificans</a>-like</li>-<li>-<a href="/articles/osteopathia-striata">osteopathia striata</a>-like</li>-<li>mixed</li>-</ul><p>Not infrequently features of melorheostosis, <a href="/articles/osteopathia-striata">osteopathia striata</a> and <a href="/articles/osteopoikilosis-2">osteopoikilosis</a> may co-exist in a so-called overlap syndrome, termed <a href="/articles/mixed-sclerosing-bone-dysplasia">mixed sclerosing bone dysplasia</a>. These conditions may share an underlying aetiology (loss of function mutations in the <em>LEMD3</em> gene) <sup>1</sup>.</p><h5>MRI</h5><p>Usually, the lesions show low signal on all imaging sequences, with no enhancement.</p><h5>Nuclear medicine</h5><p>An increase in radiotracer uptake is usually present on late phase bone scans <sup>2</sup>.</p><h4>Treatment and prognosis</h4><p>The disease is of variable severity, but in general follows a chronic progressive course in adults and a faster course in children, occasionally resulting in substantial disability from contractures or deformity.</p><p>Conservative management is often unrewarding, and in severe cases, surgical intervention may be required, including tendon release, osteotomies and even amputation <sup>1-3</sup>. </p><h4>History and etymology</h4><p>The condition was first written up in the literature by the French neurologist <strong>Andre Leri</strong> (1875-1930) <sup>7 </sup>and <strong>J Joanny</strong> in 1922 <sup>6</sup>.</p><p>The name is derived from the Ancient Greek words for limb (melos) and flow (rhe), due to its characteristic appearance of flowing hyperostosis <sup>1,3</sup>.</p><h4>Differential diagnosis</h4><p>Possible considerations include</p><ul>-<li><a href="/articles/myositis-ossificans-1">myositis ossificans</a></li>-<li><a href="/articles/osteoma">osteoma</a></li>-<li>focal <a href="/articles/scleroderma">scleroderma</a>-</li>-<li><a href="/articles/parosteal-osteosarcoma-1">parosteal osteosarcoma</a></li>-<li><a href="/articles/caffey-disease-1">Caffey disease</a></li>-<li>-<a href="/articles/sclerotic-bone-metastases">sclerotic metastasis</a> (e.g. <a href="/articles/breast-neoplasms">breast</a> and <a href="/articles/prostate-cancer-3">prostate</a>)</li>-<li><a href="/articles/hypertrophic-osteoarthropathy">hypertrophic osteoarthropathy</a></li>- +<p><strong>Melorheostosis</strong>, also known as<strong> Leri disease</strong>, is an uncommon mesenchymal dysplasia manifesting as regions of sclerosing bone with a characteristic <a href="/articles/dripping-candle-wax-sign-melorheostosis">dripping wax appearance</a> (a.k.a. <strong>flowing candle wax appearance</strong>). </p><h4>Epidemiology</h4><p>Although changes occur in early childhood, age at presentation is often later, and the condition often remains occult until late adolescence or early adulthood. In only approximately half of the cases is the diagnosis made before the age of 20 <sup>2</sup>.</p><p>There is no recognised familial predisposition <sup>3</sup>.</p><h5>Associations </h5><ul>
- +<li>sclerodermic skin changes: thickening and fibrosis of overlying skin</li>
- +<li>hyperpigmentation of overlying skin <sup>4</sup>
- +</li>
- +<li><a href="/articles/sarcopenia">muscle atrophy</a></li>
- +<li>vascular tumours and malformations</li>
- +<li>other tumours, e.g. <a href="/articles/osteosarcoma">osteosarcoma</a>, <a href="/articles/undifferentiated-pleomorphic-sarcoma-1">malignant fibrous histiocytoma</a> <sup>4</sup>
- +</li>
- +<li><a href="/articles/buschke-ollendorff-syndrome">Buschke-Ollendorff syndrome</a></li>
- +</ul><h4>Clinical presentation</h4><p>The condition, especially in childhood, is usually asymptomatic, being diagnosed as an incidental finding on radiographs obtained for another purpose <sup>1,3</sup>. When melorheostosis does manifest clinically, the most common presentation is of joint contracture or pain, which are more common in adults <sup>3</sup>. </p><h4>Pathology</h4><h5>Distribution</h5><p>Melorheostosis can be either <a href="/articles/monostotic">monostotic</a> or <a href="/articles/polyostotic">polyostotic</a> and tends to be <a href="/articles/monomelic">monomeli</a><a href="/articles/monomelic">c</a>. It has a predilection for long bones of the limbs, although it can be seen almost anywhere. Hands and feet are not infrequently involved whereas involvement of the axial skeleton is rare <sup>1,2</sup>. The condition has a tendency to give a <a href="/articles/sclerotome">sclerotome</a> distribution. Uncommonly, it can present with a mineralised peri-articular mass.</p><h4>Radiographic features</h4><h5>Plain radiograph</h5><p>Radiographs are considered sufficient for establishing the diagnosis.</p><p>Five patterns have been described <sup>1</sup>:</p><ul>
- +<li>classic<ul>
- +<li>periosteal cortical thickening is characteristic, but endosteal thickening is also seen in many cases, especially when the age of onset is in adolescence, where it may be purely endosteal <sup>5</sup>
- +</li>
- +<li>thick undulating ridges of bone, reminiscent of molten wax (<a href="/articles/dripping-candle-wax-sign-melorheostosis">dripping wax appearance</a> or <a href="/articles/dripping-candle-wax-sign-melorheostosis">flowing candle wax appearance</a>)</li>
- +<li>confined to sclerotomes, and can be seen apparently flowing across joints to the next bone</li>
- +</ul>
- +</li>
- +<li>
- +<a href="/articles/osteoma">osteoma</a>-like</li>
- +<li>
- +<a href="/articles/myositis-ossificans-1">myositis ossificans</a>-like</li>
- +<li>
- +<a href="/articles/osteopathia-striata">osteopathia striata</a>-like</li>
- +<li>mixed</li>
- +</ul><p>Not infrequently features of melorheostosis, <a href="/articles/osteopathia-striata">osteopathia striata</a> and <a href="/articles/osteopoikilosis-2">osteopoikilosis</a> may co-exist in a so-called overlap syndrome, termed <a href="/articles/mixed-sclerosing-bone-dysplasia">mixed sclerosing bone dysplasia</a>. These conditions may share an underlying aetiology (loss of function mutations in the <em>LEMD3</em> gene) <sup>1</sup>.</p><h5>MRI</h5><p>Usually, the lesions show low signal on all imaging sequences, with no enhancement.</p><h5>Nuclear medicine</h5><p>An increase in radiotracer uptake is usually present on late phase bone scans <sup>2</sup>.</p><h4>Treatment and prognosis</h4><p>The disease is of variable severity, but in general follows a chronic progressive course in adults and a faster course in children, occasionally resulting in substantial disability from contractures or deformity.</p><p>Conservative management is often unrewarding, and in severe cases, surgical intervention may be required, including tendon release, osteotomies and even amputation <sup>1-3</sup>. </p><h4>History and etymology</h4><p>The condition was first written up in the literature by the French neurologist <strong>Andre Leri</strong> (1875-1930) <sup>7 </sup>and <strong>J Joanny</strong> in 1922 <sup>6</sup>.</p><p>The name is derived from the Ancient Greek words for limb (melos) and flow (rhe), due to its characteristic appearance of flowing hyperostosis <sup>1,3</sup>.</p><h4>Differential diagnosis</h4><p>Possible considerations include</p><ul>
- +<li><a href="/articles/myositis-ossificans-1">myositis ossificans</a></li>
- +<li><a href="/articles/osteoma">osteoma</a></li>
- +<li>focal <a href="/articles/scleroderma">scleroderma</a>
- +</li>
- +<li><a href="/articles/parosteal-osteosarcoma-1">parosteal osteosarcoma</a></li>
- +<li><a href="/articles/caffey-disease-1">Caffey disease</a></li>
- +<li>
- +<a href="/articles/sclerotic-bone-metastases">sclerotic metastasis</a> (e.g. <a href="/articles/breast-neoplasms">breast</a> and <a href="/articles/prostate-cancer-3">prostate</a>)</li>
- +<li><a href="/articles/hypertrophic-osteoarthropathy">hypertrophic osteoarthropathy</a></li>
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