What is Melorheostosis

Melorheostosis is a rare and progressive bone disorder characterized by abnormal growth and hardening of the bones. It primarily affects the long bones of the limbs, but can also involve other bones such as the skull or spine. The condition is thought to result from a somatic mutation in a specific gene during early development, although the exact cause is still unknown.

Symptoms: Melorheostosis typically presents with bone pain, joint stiffness, and limited range of motion. The affected bones may appear thickened and have a "dripping candle wax" appearance on X-rays. In some cases, soft tissue abnormalities or vascular malformations may also be present.

Treatment: As melorheostosis is a rare condition, treatment options are limited and mainly focus on managing symptoms. This may involve pain management strategies, physical therapy to improve mobility, and assistive devices to support affected joints. In severe cases, surgical interventions such as bone resection or joint fusion may be considered.

It is important for individuals with melorheostosis to work closely with a healthcare team specializing in bone disorders to develop a personalized treatment plan and ensure optimal management of the condition.