A rare skeletal disorder called melorheostosis causes a lesion of bone to become overly thick and dense. And, the skin and soft tissues surrounding the lesion also becomes hard. On x-rays, the excess bone formation resembles dripping candle wax. In a recent study by researchers of National Institutes of Health, found that the cause of the rare disorder is a certain gene mutation.
Symptoms of Melorheostosis
According to National Institutes of Health, symptoms of melorheostosis vary from person to person. It often affects the lower limbs, but it can also affect the arms or hands as well. In rare cases, it affects the skull, spinal cord, or ribs. Mostly, it affects one area of the body and multiple areas in rare cases.
In some, hardened skin and tissues around the affected bone can also cause stiffness. The skin may be shiny, reddish, or with prominent veins. People with melorheostosis have pain ranging from dull to sharp. However, the pain is rarely constant or severe but often worsens with some activity involved.
In the recent study published in the journal Nature Communications, researchers found that genetic mutation is the cause of the melorheostosis. "Scientists previously assumed that the genetic mutations responsible for melorheostosis occurred in all cells of a person with the disorder," said co-senior author Timothy Bhattacharyya, M.D., head of the Clinical and Investigative Orthopaedics Surgery Unit at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at NIH. "Our team hypothesized that mutations might only occur in the affected bone tissue."
Diagnosis of a genetic or rare disease is often challenging. Doctors may take a look at the medical history of the person, symptoms and run a few laboratory tests in order to make a diagnosis.
Though there isn't enough data on treatment for melorheostosis, non-surgical and surgical processes are used to manage pain.