Following specialists treat Systemic Sclerosis. Help us improve our data based on your experience.
Specialty scores for Systemic Sclerosis
Source: In partnership with Genetic and Rare Diseases Information Center, funded by the National Center for Advancing Translational Sciences, and the National Human Genome Research Institute https://rarediseases.info.nih.gov/gard.
Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud's phenomenon, which can occur weeks to years before fibrosis. This may be followed by puffy or swollen hands before the skin becomes thickened and hard. Fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys.
There are three types of systemic scleroderma, defined by the tissues affected in the disorder.
Date Modified: 2013-01-30T19:52:00
The exact, underlying cause of systemic sclerosis is unknown. The cause appears to involve some injury to the cells that line blood vessels, resulting in excessive activation of dermal connective tissue cells, called fibroblasts. Fibroblasts normally produce collagen and other proteins. Build-up of collagen in the skin and other organs causes the signs and symptoms of the condition.
It is suspected that scleroderma may develop from a variety of factors, which may include:
Date Modified: 2014-04-09T10:12:00
Most cases of systemic scleroderma are sporadic and are not inherited. This means the condition typically occurs in people with no history of the condition in their family. Some people with systemic scleroderma have relatives with other autoimmune disorders, and a few cases of the condition have been reported to run in families. However, the condition is not caused by a single gene that is passed on to offspring. Multiple genetic and environmental factors likely interact to put someone at an increased risk to develop the condition.
Date Modified: 2014-04-09T10:13:00
Because systemic scleroderma is not caused by a mutation in any one specific gene, clinical genetic testing to confirm a diagnosis or identify a "carrier" is not currently available. Even if someone is known to carry a version of a gene that may make them susceptible to the condition, it does not mean they will definitely develop the condition.
You can view a list of centers that may be involved in research projects on systemic scleroderma on Orphanet's Web site.
You can also view a list of clinical trials involving people with systemic scleroderma on ClinicalTrials.gov.
People interested in learning more about genes and genetic testing for systemic scleroderma should speak with a genetics professional.
Date Modified: 2014-04-09T10:13:00
Abnormality of the gastric mucosa
Atypical scarring of skin
Lack of skin elasticity
Nausea and vomiting
Skeletal muscle atrophy
Abnormality of the myocardium
Abnormality of the pericardium
Feeding difficulties in infancy
Telangiectasia of the skin
Abnormal renal physiology
Abnormal tendon morphology
Coronary artery disease
Abnormality of chromosome stability
Abnormality of the abdomen
Autosomal dominant inheritance