Living with Melorheostosis
A rare bone condition in which extra bone grows on the surface of bones, often in one arm or leg, causing pain and stiffness.
Understanding Melorheostosis
On X-rays the new bone looks like flowing or dripping candle wax. It most often affects the bones of one arm or leg but can affect other bones. Signs usually start in childhood or adolescence. The condition can cause chronic pain, joint stiffness, and limited motion. The skin over the area can become red, thick, and shiny.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain
- Joint pain and stiffness
- Bone overgrowth (hyperostosis)
- Limited movement of the affected limb
- Legs or arms of different size or length
- Muscle shrinking (atrophy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in MAP2K1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Melorheostosis Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Melorheostosis Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Melorheostosis Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MAP2K1 gene are listed as a cause. GARD says melorheostosis alone and Buschke-Ollendorff syndrome have different genetic causes and are separate disorders.
Also known as: mel; melorheostosis, isolated; melorheostosis, isolated, somatic mosaic
Patient organizations
- Melorheostosis AssociationMelorheostosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Melorheostosis.
Explore research for Melorheostosis
Explore actively recruiting Melorheostosis studies with HealthSpark.
Find actively recruiting studies for Melorheostosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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