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We tend to be clued up about bone conditions such as osteoporosis, but have you ever heard about a rare disease that causes your bones to “drip” like a melting candle?
It’s in fact excessive bone growth that produces X-ray images resembling dripping candle wax – there's no actual liquid involved.
A genetic mutation
This rare disorder is called melorheostosis, and worldwide there are only about 400 known cases of this disorder.
A recent report indicates that researchers might have found the cause of this rare bone disorder.
In a new study published in the journal, Natural Communications, researchers investigated a genetic mutation that appears to cause the condition.
The researchers, all from the National Institutes of Health (NIH) in the USA, worked with 15 patients from around the world to discover the genetic basis of this disease.
According to a news release from the NIH, researchers compared samples of healthy and affected bones from each participant to determine the genetic basis of each sample. In the bones affected by melorheostosis, a gene mutation causes a certain protein to become overactive, hence the overgrowth of bone.
Study holds promise for osteoporosis as well
The new research holds promise for better management of melorheostosis as well as further research into the role of cancer-related gene mutations in the bones, says study author Joan Marini.
Not only do the findings suggest new ways to treat the condition but also provide clues about normal bone development, and could have implications for more common bone conditions, including osteoporosis, the researchers said.
In addition, the understanding of this rare bone disorder might also lead researchers to better treatment or even a cure for osteoporosis. Osteoporosis is a much more common bone disorder, which causes an alarming 8.9 million bone fractures yearly (about one fracture every three seconds).
Symptoms
Melorheostosis usually presents during early childhood and may be noticed when limbs are of unequal length and/or if joints are stiff and deformed.
While the gene mutation has been linked to certain cancers, the bone growth itself is benign but can cause the bones to become overly thick and dense. This can cause pain and limited mobility of the joints.
Diagnosis
Because of the rareness of this disorder, it is often remains undiagnosed. Healthcare professionals will use medical history, X-rays and laboratory tests to diagnose this condition.
Treatment
While information on treatment for this disorder is extremely limited, non-surgical approaches such as pain management through medication have helped patients in the past. According to a study published in the Journal of Foot and Ankle Surgery, it can be a bit more difficult to treat the limited movement in affected joints. This is, unfortunately, a permanent symptom of the disorder.
In cases where a limb that is longer than the other affects movement, corrective surgery may be considered.
View this bone condition as it shows up on X-ray pictures.
Image credit: iStock
