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What is Melorheostosis?

Mary McMahon
Mary McMahon
Mary McMahon
Mary McMahon

Melorheostosis is a bone condition where one or more of a patient's bones are unusually thickened, with an appearance that looks like melting wax. People can develop bone lesions very early in life, and often the first signs show up before the patient reaches the age of three. A doctor can diagnose melorheostosis with the use of x-rays and other imaging studies to look at the bone. Treatment options are available to manage the condition and keep the patient comfortable.

People with this condition have an unusual gene mutation and may also have other genetic issues. Instead of growing normally, the bones develop outgrowths and lumpy deposits. Soft tissue next to the bone may ossify, hardening and growing over. Usually, the skin over the thickening is tight and shiny. The patient can experience pain and as the thickness increases, joint pain and stiffness may develop. Patients can experience contractures, where limbs flex and cannot be moved out of position.

Melorheostosis is common in long bones like the femur.
Melorheostosis is common in long bones like the femur.

Sometimes only one bone, usually a long bone like the femur, is involved. In other cases, melorheostosis may present in multiple bones. Surgery can help, with the surgeon removing the excessive growth and smoothing the bone to try and prevent a recurrence. Medications may be helpful for some patients and physical therapy will help people retain their freedom of movement for as long as possible. This includes exercises to do at home to retain flexibility.

Melorheostosis is very rare. Patients presenting with bone pain may start with a general practitioner and work their way to an orthopedic surgeon who can review the case, order imaging studies, and diagnose melorheostosis. The doctor may recommend seeing a specialist familiar with this condition to get access to the best possible care, including experimental medications only available to people in clinical trials. People with experience may also be aware of successful surgical techniques and other options for managing the condition.

People with melorheostosis can develop impairments later in life, even when the condition is controlled. A mobility aid may be needed for stability for patients with contractures or severe pain. This may be a cane, walker, or wheelchair, depending on the specifics of a patient's case. Some patients may need personal assistance if the lesions cover multiple bones and interfere with basic tasks of daily living.

Associations of melorheostosis patients can help connect people with necessary services and provide information for people who have just received a diagnosis. It can be helpful to talk with people who have experience with the condition to learn more about what to expect, what to avoid, and how to proceed.

Mary McMahon
Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a WiseGEEK researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

Learn more...
Mary McMahon
Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a WiseGEEK researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

Learn more...

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    • Melorheostosis is common in long bones like the femur.
      By: maya2008
      Melorheostosis is common in long bones like the femur.