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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 1-2

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 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, with the condition 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. This is 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 sclerotomal distribution.

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

Radiographic features

Plain film

Five patterns have been described 1

The classic appearance is one of thick undulating ridges of bone, reminiscent of molten wax. The abnormality appears confined to sclertomes, and can be seen apparently flowing across joints to the next bone.  

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.

Nuclear medicine

Increase in radiotracer uptake is usually present on late phase bone scans 2.

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.

Treatment and prognosis

The disease is of variable severity, but in general follows a chronic progressive course in adults and more 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

Differential diagnosis

Consider

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