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.

Malorheostosis refers to a disease in which there is a partial thickening of the bones, that is to say in the extremes. Due to the appearance of the bones, which becomes visible through retrieval, the syndrome is also called candlelight disease or waxbone disease.

The cause, according to previous assumptions, is a mutation in the LEMD3 / MAN1 gene. In most cases, the disease does not cause discomfort to the person concerned and is more likely to be accidentally detected in resuscitation. In some cases, however, it may cause skin detachment, functional damage to the tendons and joints, pain or contractures.

Even less frequently there may be a bridging of the expansion joints by the thickening, which leads to growth disturbances.