Sclerosis, also known as granite bone disease, is a rare genetic mutation that causes bone proliferation. This mutation causes bones, rather than decreasing in density over the years, to become thicker and denser, becoming stronger than granite.
Therefore, scleroteosis prevents the onset of bone diseases such as osteoporosis, but leads to other changes, such as increased pressure inside the skull, which, if not treated, can be life-threatening.
- The main sign of sclerotheosis is an increase in bone density.
- However.
- Some symptoms can alert you to the disease.
- Such as:.
As it is an extremely rare disease, its diagnosis is complex and therefore the doctor may need to evaluate all symptoms and medical history, as well as perform various tests, such as bone densimetry, before suggesting the diagnosis of scleroteosis.
In some cases, a genetic test may also be requested to evaluate DNA and possible mutations, and may help identify the change in the SOST gene, which causes the disease.
The main cause of scleroteosis is a mutation that occurs in the SOST gene and decreases the action of sclerine, the protein responsible for decreasing and increasing bone density over a lifetime.
Usually the disease only occurs when there are two modified copies of the gene, but people with only one copy can also have extremely strong bones and a lower risk of bone diseases, such as osteoporosis or osteopenia.
There is no cure for scleroteosis and therefore its treatment is done only to alleviate certain symptoms and deformities that can result from excessive bone growth.
One of the most commonly used forms of treatment is surgery that can help decompress the facial nerve and regain movement of facial muscles, or eliminate excess bone to reduce pressure inside the skull, for example.
Therefore, treatment should always be discussed with your doctor to assess whether there are any life-threatening changes or quality of life that can be corrected.