Last revised by Daniel J Bell on 25 Feb 2024

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). 

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 recognized familial predisposition 3.

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.  

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. Uncommonly, it can present with a mineralized periarticular mass.

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 a so-called overlap syndrome, termed mixed sclerosing bone dysplasia. These conditions may share an underlying etiology (loss of function mutations in the LEMD3 gene) 1.

Usually, the lesions show low signal on all imaging sequences, with no enhancement.

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

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

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.

Possible considerations include

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