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Disease Profile
Diffuse cutaneous systemic sclerosis
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.
0
Age of onset
Adult
ICD-10
M34.0
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)
Diffuse cutaneous systemic sclerosis; DcSSc; Progressive cutaneous systemic scleroderma;
Categories
Heart Diseases; Kidney and Urinary Diseases; Lung Diseases;
Summary
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of systemic scleroderma (systemic sclerosis) characterized by skin hardening (fibrosis) and problems in many
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 | ||
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 |
Dyspnea |
Trouble breathing
|
0002094 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Narrow foramen obturatorium | 0100958 | |
Oliguria | 0100520 | |
Pulmonary infiltrates |
Lung infiltrates
|
0002113 |
30%-79% of people have these symptoms | ||
Arthralgia |
Joint pain
|
0002829 |
Joint inflammation
|
0001369 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Dyspareunia | 0030016 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Muscle weakness |
Muscular weakness
|
0001324 |
Osteolysis |
Breakdown of bone
|
0002797 |
Pulmonary fibrosis | 0002206 | |
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 | ||
Abnormal bowel sounds | 0030142 | |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Hypertensive crisis | 0100735 | |
Nausea and vomiting | 0002017 | |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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Differential diagnoses include Sharp syndrome, systemic lupus erythematosus, antiphospholipid syndrome, polyarteritis nodosa, polymyositis, and rheumatoid arthritis (see these terms).
Visit the Orphanet disease page for more 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
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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 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.
In-Depth Information
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Diffuse cutaneous systemic sclerosis. Click on the link to view a sample search on this topic.
References
- Varga J. Overview of the clinical manifestations of systemic sclerosis (scleroderma) in adults. UpToDate. June 03, 2016; https://www.uptodate.com/contents/overview-of-the-clinical-manifestations-of-systemic-sclerosis-scleroderma-in-adults.
- Diffuse cutaneous systemic sclerosis. Orphanet. July 2010. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=18905.