Melorheostosis

Melorheostosis, also known as Leri disease, is an uncommon mesenchymal dysplasia manifesting as regions of sclerosing bone with a characteristic dripping wax appearance or 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.

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 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.

Associations 
  • sclerodermic skin changes: thickening and fibrosis of overlying skin
  • vascular tumours and malformations
  • muscle atrophy

Radiographic features

Radiograph

Radiographs are considered sufficient for establishing the diagnosis.

Five patterns have been described 1:

Not infrequently features of melorheostosis, osteopathia striata and osteopoikilosis may co-exist in so-called overlap syndromes. 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 name is derived from the Greek words for limb (melos) and flow (rhe), due to its characteristic appearance of flowing hyperostosis 1,3.

Differential diagnosis

Consider:

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Article Information:

rID: 8999
System: Musculoskeletal
Section: Pathology
Tag: refs
Synonyms or Alternate Spellings:
  • Leri disease
  • Melorheostosis (Leri disease)
  • Leri's disease
  • Flowing periosteal hyperostosis
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    Polyostotic melor...
    Case 1: polyostotic melorheostosis
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    Possible Melorheo...
    Case 2: monostotic melorheostosis
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    Melorheostosis
    Case 3: monostotic melorheostosis
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    Melorheostosis
    Case 4
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    Right forearm pla...
    Case 5: involving radius
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    Sclerotic 6th and...
    Case 6
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    Case 7: monostotic - involving finger
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    Case 8
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    Case 9
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    Case 10: polyostotic
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