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Disease Profile
Systemic scleroderma
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
Adult
ICD-10
M34.0 M34.1 M34.2 M34.8 M34.9
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Systemic sclerosis; Scleroderma, systemic; Progressive systemic sclerosis
Categories
Skin Diseases
Summary
Systemic scleroderma is an autoimmune disorder that affects the skin and internal
There are three types of systemic scleroderma, defined by the tissues affected in the disorder.[1][2]
- Diffuse cutaneous systemic sclerosis
- Limited cutaneous systemic sclerosis (which includes CREST syndrome)
- Limited systemic sclerosis (systemic sclerosis sine scleroderma)
Treatment depends on the symptoms that are present and the organs that are affected in the disease, and may include immunosupressive therapy.[3]
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of the gastric mucosa |
Abnormality of the mucous membrane layer of stomach
|
0004295 |
Arthralgia |
Joint pain
|
0002829 |
Joint inflammation
|
0001369 | |
Atypical scarring of skin |
Atypical scarring
|
0000987 |
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 |
Chest pain | 0100749 | |
Chondrocalcinosis |
Calcium deposits in joints
|
0000934 |
Cough |
Coughing
|
0012735 |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Gastroparesis |
Delayed gastric emptying
|
0002578 |
Hyperkeratosis | 0000962 | |
Lack of skin elasticity | 0100679 | |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Nausea and vomiting | 0002017 | |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
30%-79% of people have these symptoms | ||
Cachexia |
Wasting syndrome
|
0004326 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Gangrene |
Death of body tissue due to lack of blood flow or infection
|
0100758 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Mucosal telangiectasiae | 0100579 | |
Myocardial fibrosis | 0001685 | |
Myositis |
Muscle inflammation
|
0100614 |
Papule | 0200034 | |
Pericarditis |
Swelling or irritation of membrane around heart
|
0001701 |
Pulmonary fibrosis | 0002206 | |
Pulmonary infiltrates |
Lung infiltrates
|
0002113 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Skin ulcer |
Open skin sore
|
0200042 |
Telangiectasia of the skin | 0100585 | |
Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ] |
0000217 |
5%-29% of people have these symptoms | ||
Angina pectoris | 0001681 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Bowel incontinence |
Loss of bowel control
|
0002607 |
Erectile dysfunction |
Abnormal erection
Erectile abnormalities
[ more ] |
0100639 |
Feeding difficulties in infancy | 0008872 | |
Hypertensive crisis | 0100735 | |
Irregular hyperpigmentation | 0007400 | |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Narrow mouth |
Small mouth
|
0000160 |
Osteolysis |
Breakdown of bone
|
0002797 |
Osteomyelitis |
Bone infection
|
0002754 |
0009830 | ||
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
0001250 | ||
Tendon rupture |
Rupture of tendons
Ruptured tendon
[ more ] |
0100550 |
Tetralogy of Fallot with atrioventricular canal defect | 0011677 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal abdomen morphology |
Abnormality of abdomen structure
|
0001438 |
Abnormality of |
0003220 | |
0000006 | ||
Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
Chromosome breakage | 0040012 | |
Sclerodactyly | 0011838 | |
Scleroderma | 0100324 | |
Telangiectasia | 0001009 |
Cause
It is suspected that scleroderma may develop from a variety of factors, which may include:[6][4][7]
- Abnormal immune or inflammatory activity
- Genetic
susceptibility : while no specificgenes are thought to cause scleroderma, certain variations in genes or combination of genes may increase a person's risk to be affected. These genes include several human leukocyte antigen (HLA) complex genes, and also non-HLA genes such as the TNFAIP3, CD247, IRF5, STAT4, and PTPN22 genes. However, while the risk of being affected by the disease is increased when a relative is affected, the condition is not passed directly from parents to children. - Environmental triggers: suspected triggers may include infections; injury; drugs (e.g. vitamin K, cocaine, penicillamine, appetite suppressants and some chemotherapeutic agents); and chemicals (e.g. silica, organic solvents, pesticides, aliphatic hydrocarbons and epoxy resin).
Hormones : because women develop scleroderma more often than men, researchers suspect that hormones may play a role, but the role of female hormones has not been proven.
Widespread scleroderma can also occur in association with other
It is thought that the disease is triggered from the exposure to the
Diagnosis
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.
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Nintedanib(Brand name: Ofev) Manufactured by Boehringer Ingelheim Pharmaceuticals
FDA-approved indication: September 2019, nintedanib (Ofev) was approved to slow the rate of decline in pulmonary function in patients with systemic sclerosis associated interstitial lung disease (SSc-ILD).
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
International Scleroderma Network (ISN)
7455 France Ave So #266
Edina, MN 55435-4702
Toll-free: 1-800-564-7099
Telephone: +1-952-831-3091
E-mail: [email protected]
Website: https://www.sclero.org/index.html -
Scleroderma & Raynaud's UK (SRUK)
18-20 Bride Lane
London, EC4Y 8EE United Kingdom
Toll-free: 0800 311 2756 (Helpline)
Telephone: 020 7000 1925 (Office)
E-mail: [email protected]
Website: https://www.sruk.co.uk -
Scleroderma Foundation
300 Rosewood Drive, Suite 105
Danvers, MA 01923
Toll-free: 1-800-722-4673 (HOPE)
Telephone: +1-978-463-5843
Fax: +1-978-463-5809
E-mail: [email protected]
Website: https://www.scleroderma.org -
Scleroderma Research Foundation
220 Montgomery Street, Suite 484
San Francisco, CA 94104
Telephone: +1-415-834-9444
E-mail: [email protected]
Website: https://srfcure.org/ -
Scleroderma Society of Ontario
41 King William Street, Suite 202
Hamilton, ON, L8R 1A2 Canada
Toll-free: 1-888-776-7776 (Helpline)
Telephone: +1-905-544-0343
E-mail: [email protected]
Website: https://www.sclerodermaontario.ca/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Systemic scleroderma. This website is maintained by the National Library of Medicine.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
References
- Systemic scleroderma. Genetics Home Reference (GHR). 2015; https://ghr.nlm.nih.gov/condition/systemic-scleroderma.
- Denton CP. Overview and classification of scleroderma disorders. UpToDate. 2016; https://www.uptodate.com/contents/overview-and-classification-of-scleroderma-disorders.
- Denton CP. Overview of the treatment and prognosis of systemic sclerosis (scleroderma) in adults. UpToDate. February 05, 2018; https://www.uptodate.com/contents/overview-of-the-treatment-and-prognosis-of-systemic-sclerosis-scleroderma-in-adults.
- Ngan V. Systemic sclerosis. DermNet NZ. 2018; https://dermnetnz.org/immune/systemic-sclerosis.html.
- Scleroderma. MedlinePlus. April, 2018; https://www.nlm.nih.gov/medlineplus/ency/article/000429.htm.
- Handout on Health: Scleroderma. NIAMS. 2016; https://www.niams.nih.gov/Health_Info/Scleroderma/default.asp#4.
- Varga J. Risk factors for and possible causes of systemic sclerosis (scleroderma). UpToDate. November 07, 2017; https://www.uptodate.com/contents/risk-factors-for-and-possible-causes-of-systemic-sclerosis-scleroderma.
- Systemic scleroderma. Genetics Home Reference. 2015; https://ghr.nlm.nih.gov/condition/systemic-scleroderma.
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