Other calcification of muscle, multiple sites, also known as tumoral calcinosis, is a rare disorder characterized by the formation of calcium deposits in soft tissues such as muscles, tendons, and ligaments. These deposits can cause pain, stiffness, and decreased mobility in affected areas.
The condition usually affects multiple sites, and the calcium deposits can grow to be very large, resembling tumors. Tumoral calcinosis is typically inherited in an autosomal recessive manner, which means that two copies of the abnormal gene are required to develop the disorder.
Currently, there is no cure for tumoral calcinosis. Treatment options include surgical removal of the calcium deposits, medications to control pain and inflammation, and physical therapy to improve mobility and flexibility.
The symptoms of tumoral calcinosis can vary depending on the size and location of the calcium deposits. Common symptoms include:
The exact cause of tumoral calcinosis is not fully understood. However, it is known to be caused by mutations in at least three different genes - FGF23, GALNT3, and KL. These genes play a role in regulating phosphate levels in the body, which is essential for healthy bone and tissue growth. When these genes are mutated, they can cause an imbalance in phosphate levels, leading to the formation of calcium deposits in soft tissues.
Tumoral calcinosis is typically diagnosed through a combination of physical examination, imaging tests such as X-rays and CT scans, and genetic testing to identify mutations in the FGF23, GALNT3, and KL genes.
Treatment options for tumoral calcinosis include:
Your doctor will work with you to develop a treatment plan that is tailored to your specific needs and symptoms.
While there is no known cure for tumoral calcinosis, early diagnosis and treatment can help manage symptoms and improve quality of life for those affected by the disorder.