Melorheostosis

Also known as: Leri disease

Overview

Melorheostosis is a rare condition characterised by hyperostosis (overgrowth) of cortical (outer layer) bone. It affects both bone and soft tissue (muscle and tendons) growth and development. The age of diagnosis varies widely but it commonly starts in childhood. Melorheostosis is somewhat more common in individuals who have a condition called osteopoikilosis (‘spotty bones’). While the condition is not life threatening, it often results in pain, limitation of movement, malformed and immobilised muscles, limbs or tendons, and there may be associated skin and blood vessel problems. Most cases occur by chance (sporadically) with no previous family history. It is usually diagnosed though X-rays, which often show the characteristic pattern of thickened bone that resembles dripping candle wax. Cases associated with osteopoikilosis and Bruschke Ollendorf syndrome are caused by a mutation in the LEMD3 gene (a gene critical to bone formation), but this association is less certain for sporadic melorheostosis. Pain management is required in many cases of melorheostosis. Other treatment options may include surgery, physical and occupational therapy, although most cases do not require surgical intervention.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved November 2013 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT.

Is there support?

There is no support group for Melorheostosis in the UK. Cross referrals to other medical information entries on our website are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Melorheostosis.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.