Melorheostosis
Melorheostosis
Melorheostosis (pronounced meh-loh-ree-oh-stoh-sis) is a rare, non-hereditary skeletal disorder that is characterized by the thickening of the dense outer layer of bone, known as the cortical bone. The term "melorheostosis" is derived from the Greek words "melos" meaning limb, "rhein" meaning to flow, and "osteon" meaning bone, reflecting the characteristic flowing hyperostosis often seen in radiographic images of affected bones.
Symptoms
The symptoms of melorheostosis can vary greatly from person to person. They may include pain, stiffness, limited range of motion, and deformity of the affected limb. In some cases, the skin overlying the affected bone may also be involved, leading to the development of cutaneous lesions.
Causes
The exact cause of melorheostosis is currently unknown. However, recent research suggests that it may be due to somatic mutations in the MAP2K1 gene, which is involved in the regulation of cell growth and division.
Diagnosis
Diagnosis of melorheostosis is typically based on the characteristic findings seen on X-ray images of the affected bones. These may include areas of dense, flowing hyperostosis that resemble dripping candle wax.
Treatment
There is currently no cure for melorheostosis. Treatment is typically focused on managing symptoms and may include pain management, physical therapy, and in some cases, surgery to correct deformities or improve function.
Related Terms
External links
- Medical encyclopedia article on Melorheostosis
- Wikipedia's article - Melorheostosis
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