Rare Gastroenterology News

Disease Profile

Diffuse cutaneous systemic sclerosis

Prevalence
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.

Unknown

Age of onset

Adult

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 organs of the body. The disease can occur at any age but mainly affects people between 40 and 50 years of age. Symptoms include Raynaud’s phenomenon; skin fibrosis beginning on the fingers and face that rapidly becomes generalized; "spider veins" (telangiectasias) on the thorax, face, lips, tongue, and fingers; gastroesophageal reflux; and difficulty eating (dysphagia) along with weight loss, vomiting, diarrhea or constipation. Dry mouth and dental involvement can occur. Joint pain (arthralgias), muscular pain, weakness, cramps, and destruction of the tips of the fingers or toes (acroosteolysis) are frequent. Severe problems involving the lung (fibrosis or pulmonary hypertension) and kidney problems may also occur.[1][2] The exact cause of the condition is unknown. There is currently no cure. Treatment depends of the symptoms, but may include medication and surgery.[1]

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
Arthritis
Joint inflammation
0001369
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Dyspareunia
0030016
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Flexion contracture
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 hypertension
Increased blood pressure in blood vessels of lungs
0002092
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083

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

    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

      1. 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.
      2. Diffuse cutaneous systemic sclerosis. Orphanet. July 2010. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=18905.