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Melorheostosis – Genetics Home Reference


Melorheostosis is a uncommon bone illness. It causes the irregular progress of recent bone tissue on the floor of present bones. The brand new bone has a attribute look on x-rays, typically described as “flowing” or like dripping candle wax. The surplus bone progress sometimes happens on the bones in a single arm or leg, though it may well additionally have an effect on the pelvis, breastbone (sternum), ribs, or different bones. (The time period “melorheostosis” is derived from the Greek phrases “melos,” which implies limb; “rheos,” which implies move; and “ostosis,” which refers to bone formation.) The irregular bone progress related to melorheostosis is noncancerous (benign), and it doesn’t unfold from one bone to a different.

The indicators and signs of melorheostosis often seem in childhood or adolescence. The situation may cause long-lasting (continual) ache, everlasting joint deformities (contractures), and a restricted vary of movement of the affected physique half. In some folks, the limb could seem thickened or enlarged, and the pores and skin overlying the affected space can grow to be purple, thick, and glossy.

One other uncommon illness referred to as Buschke-Ollendorff syndrome can embrace melorheostosis. Buschke-Ollendorff syndrome is characterised by pores and skin growths referred to as connective tissue nevi and areas of elevated bone density referred to as osteopoikilosis. A small share of affected people even have melorheostosis or different bone abnormalities. Scientists initially speculated that melorheostosis that happens with out the opposite options of Buschke-Ollendorff syndrome might need the identical genetic trigger as that syndrome. Nonetheless, it has since been decided that Buschke-Ollendorff syndrome and melorheostosis that happens alone are brought on by mutations in several genes, and the 2 situations are thought-about separate problems.



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