Melorheostosis

Melorheostosis refers to a disease in which a thickening of the bones, usualy in the extremities, is present. Due to the appearance of the bones, which is visible by X-ray, the syndrome is also called candlelight disease or wax bone disease.

The cause, according to previous assumptions, is a mutation in the LEMD3 / MAN1 gene. In most cases, the disease does not cause discomfort and is more likely to be detected on X-rays. In some cases, however, it can lead to skin edema, functional impairment of the tendons and joints, pain or contractures.

Even less often, a bridging of the growth joints by the thickening may be present, which leads to growth disorders.