Normophosphatemic familial tumoral calcinosis (NFTC) is one type of familial tumoral calcinosis (FTC), where hard calcium growths form in the body’s tissues, usually under the skin.
NFTC is defined by these calcium masses and normal phosphate levels in the blood. People with NFTC often show rash-like changes in the skin and mucous membrane inflammation in their first year. The skin issues typically appear on the arms and legs and turn into calcified masses over time, causing painful ulcers with chalk-like discharge, as well as infections in the skin and bones. Many with NFTC also experience severe inflammation in the mouth and eyes. The standard treatment is surgery to remove the calcified masses.
NFTC is caused by pathogenic (disease-causing) variants in the SAMD9 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.