Sclerosis, also known as granite bone disease, is a rare genetic mutation that causes bone overgrowth. This mutation causes the bones, instead of decreasing in density over the years, to become increasingly thick and dense, becoming stronger than granite.
Thus, sclerosteosis prevents the onset of bone diseases such as osteoporosis, but causes other changes, such as increased pressure inside the skull, which, if not treated, can be life-threatening.
Main symptoms
The main sign of sclerosteosis is the increase in bone density, however, there are some symptoms that can alert you to the disease, such as:
- Junction of 2 or 3 fingers on the hands; Changes in the size and thickness of the nose; Exaggerated growth of the bones of the skull and face; Difficulty moving some muscles of the face; Fingertips curved downwards; Absence of nails on the fingers; Height higher than average.
Because it is an extremely rare disease, its diagnosis is complex and, therefore, the doctor may need to evaluate all symptoms and clinical history, as well as perform several tests, such as bone densimetry, before suggesting the diagnosis of sclerosteosis.
In some cases, a genetic test may also be ordered that will evaluate the DNA and possible mutations, and may help to identify the change in the SOST gene, which causes the disease.
Because it happens
The main cause of sclerosteosis is a mutation that occurs in the SOST gene and that decreases the action of sclerostin, the protein responsible for the decrease in bone density and that increases throughout life.
Usually, the disease only arises when there are two altered copies of the gene, but people with a single copy may also have extremely strong bones and a lower risk of bone diseases, such as osteoporosis or osteopenia.
How the treatment is done
There is no cure for sclerosteosis and, therefore, its treatment is done only to relieve some symptoms and deformities that may arise from excessive bone growth.
One of the most used forms of treatment is surgery that can help to decompress the facial nerve and recover movement of the facial muscles, or remove excess bone in order to reduce the pressure inside the skull, for example.
Thus, treatment should always be discussed with the doctor to assess whether there are changes that could be life-threatening or that are decreasing quality of life, and that can be corrected.
