An estimated 300,000 Americans are living with systemic sclerosis. This is a chronic connective tissue disease more commonly called scleroderma, after the most common manifestation of the condition, a hardening and tightening of the skin along with internal connective tissue such as that which makes up the outsides of the internal organs. It is an autoimmune disease, caused by the immune system mistakenly attacking connective tissue as though it were disease, resulting in overproduction of collagen and the stiffening of tissue. It generally first appears between the ages of 30 and 50, and can be triggered or exacerbated by exposure to silica dust, certain industrial solvents, or other chemicals.
Another possible trigger for scleroderma, according to scientists, may be common forms of cancer. A gene mutation associated with cancer was determined in a recent study to produce the proteins flagged by the immune system as being from outside the body, setting off the immune response behind scleroderma. The idea of a genetic basis for scleroderma had previously been dismissed because the condition does not run in families, though it is more common among patients of particular ethnic backgrounds. This finding points at the gene in question being in the cancer itself, rather than the healthy tissue. While a link between scleroderma and cancer had previously been noticed, the causative relationship, if any, had not been established.
Scleroderma has also been referred to as CREST syndrome, an acronym for the major signs and symptoms of the condition. The C is calcinosis, in which calcium builds up in the skin and forms nodules. R is the constriction of blood vessels in the hands, called Raynaud’s phenomenon, which can impede blood flow in the fingers. E is esophageal dysfunction, or difficulty swallowing caused by the esophagus stiffening. S refers to sclerodactyly, the thickening of the skin on the fingers. T is the tiny blood vessels in the face and hands dilating, a phenomenon called telangiectasias. Other symptoms include acid reflux and oval shaped patches of thick skin called morphea.