Scleroderma

Información en español Title

Not a rare disease

Categories:

Connective tissue diseases

Subtypes:

Localized scleroderma; Systemic scleroderma

Summary Summary

Scleroderma is an autoimmune disorder that may involve changes in the skin, blood vessels, muscles, and internal organs.^[1] There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin.^[2] These two main types also have sub-types.

Localized scleroderma subtypes include:^[3]

Systemic scleroderma subtypes include:^[3]^[4]

Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis (which includes CREST syndrome)
Limited Systemic Sclerosis

The underlying cause of scleroderma is currently unknown; however, some scientists suspect it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. Some cases of scleroderma are induced by environmental factors or occur in association with other underlying disorders such as rheumatoid arthritis, lupus or Sjogren syndrome.^[1]^[5] There is no cure, but various treatments may relieve symptoms.^[2]

Last updated: 9/12/2016

Symptoms 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.

Showing of 67 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Acrocyanosis		0001063
Arthralgia	Joint pain	0002829
Arthritis	Joint inflammation	0001369
Autoimmunity	Autoimmune disease Autoimmune disorder [ more ]	0002960
Cheilitis	Inflammation of the lips	0100825
Chest pain		0100749
Cough	Coughing	0012735
Dry skin		0000958
Fatigue	Tired Tiredness [ more ]	0012378
Gangrene		0100758
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Gingivitis	Inflamed gums Red and swollen gums [ more ]	0000230
Lack of skin elasticity		0100679
Muscle weakness	Muscular weakness	0001324
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Nausea and vomiting		0002017
Restrictive ventilatory defect		0002091
Skin ulcer		0200042
Subcutaneous nodule	Firm lump under the skin	0001482
Xerostomia	Dry mouth Dry mouth syndrome Reduced salivation [ more ]	0000217
30%-79% of people have these symptoms
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Abnormal pattern of respiration	Abnormal respiratory patterns Unusual breathing patterns [ more ]	0002793
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Bowel incontinence	Loss of bowel control	0002607
Chondrocalcinosis		0000934
Cranial nerve paralysis		0006824
Decreased nerve conduction velocity		0000762
Feeding difficulties in infancy		0008872
Hyperkeratosis		0000962
Hypopigmented skin patches		0001053
Malabsorption	Intestinal malabsorption	0002024
Mucosal telangiectasiae		0100579
Myocardial infarction	Heart attack	0001658
Myositis	Muscle inflammation	0100614
Nephropathy		0000112
Papule		0200034
Pericarditis		0001701
Pulmonary fibrosis		0002206
Recurrent urinary tract infections	Frequent urinary tract infections Urinary infection Urinary tract infection Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Telangiectasia of the skin		0100585
Urticaria	Hives	0001025
5%-29% of people have these symptoms
Abnormal tendon morphology	Abnormal shape of tendon	0100261
Abnormality of the anus		0004378
Abnormality of the rectum	Anomaly of the rectum	0002034
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Cachexia	Wasting syndrome	0004326
Cirrhosis	Scar tissue replaces healthy tissue in the liver	0001394
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Erectile abnormalities	Abnormal erection	0100639
Gastrointestinal hemorrhage	Gastrointestinal bleeding	0002239
Gingival bleeding	Bleeding gums	0000225
Heart block		0012722
Hematuria	Blood in urine	0000790
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Joint dislocation	Joint dislocations Recurrent joint dislocations [ more ]	0001373
Memory impairment	Forgetfulness Memory loss Memory problems Poor memory [ more ]	0002354
Narrow mouth	Small mouth	0000160
Neoplasm of the lung	Lung tumor	0100526
Osteolysis		0002797
Osteomyelitis	Bone infection	0002754
Peripheral neuropathy		0009830
Pulmonary arterial hypertension	Increased blood pressure in blood vessels of lungs	0002092
Pulmonary infiltrates	Lung infiltrates	0002113
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Seizures	Seizure	0001250
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Tracheoesophageal fistula		0002575

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2018

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

There is no cure for scleroderma, but treatments are available to relieve symptoms and limit damage to organs. Treatment varies depending on each person's symptoms.^[2]

Medications that may be used to treat scleroderma include:^[1]

Corticosteroids
Immune suppressing medications (methotrexate, Cytoxan)
Nonsteroidal anti-inflammatory drugs (NSAIDs)

Other treatments for specific symptoms may include:^[1]^[6]^[7]

Drugs for heartburn or swallowing problems (proton pump inhibitors)
Prokinetic agents to speeding the movement of food through the stomach and intestines
Antibiotics to address malabsorption syndrome
Blood pressure medications (particularly ACE inhibitors) for high blood pressure or kidney problems
Antihistamines and skin moisturizers to relieve itching
Medicines to prevent (e.g., Bosentan) or treat (e.g., iloprost) ulcers
Medicines to improve breathing (See: Pulmonary hypertension)
Medicines to treat lung scarring (e.g., cyclophosphamide)
Medications to treat Raynaud's phenomenon (e.g., nifedipine, iloprost)

More detailed information regarding the treatment of scleroderma can be accessed through Medscape Reference.

Last updated: 9/15/2016

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Scleroderma. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".
The Scleroderma Clinical Trials Consortium is an international organization of scleroderma clinical researchers. The consortium Web site contains a listing of active scleroderma trials, past copies of the Scleroderma Care and Research journal, and a tool for finding your nearest member institution.

Organizations 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

Childrens Interstitial Lung Disease (ChILD) Foundation
P.O. Box 721051
Norman, OK 73070
Telephone: 405-550-2979
E-mail: info@child-foundation.org
Website: http://www.child-foundation.com
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: isn@sclero.org
Website: http://www.sclero.org/
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: info@sruk.co.uk
Website: https://www.sruk.co.uk
Scleroderma Foundation
300 Rosewood Drive, Suite 105
Danvers, MA 01923
Toll-free: 800-722-HOPE (4673)
Telephone: 978-463-5843
Fax: 978-463-5809
E-mail: sfinfo@scleroderma.org
Website: http://www.scleroderma.org/
Scleroderma Research Foundation
220 Montgomery Street, Suite 484
San Francisco, CA 94104
Toll-free: 800-441-CURE (2873)
Telephone: 415-834-9444
Fax: 415-834-9177
E-mail: http://www.srfcure.org/contact
Website: http://www.srfcure.org
Scleroderma Society of Ontario
The Empire Times Building
41 King William Street, Empire #202
Hamilton, ON
L8R 1A2
Canada
Toll-free: 1-888-776-7776
Telephone: 905-544-0343
E-mail: anna@sclerodermaontario.ca
Website: http://www.sclerodermaontario.ca/
Steffens Scleroderma Foundation
PO Box 38037
Albany, NY 12203
Website: http://www.steffens-scleroderma.org/

Organizations Providing General Support

American Autoimmune Related Diseases Association (AARDA)
22100 Gratiot Avenue
Eastpointe, MI 48021
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/

Do you know of an organization? We want to hear from you.

Learn More 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

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Selected Full-Text Journal Articles

Select volumes of the Scleroderma Care and Research Journal can be viewed by visiting the Scleroderma Clinical Trials Consortium Web site. Click on the link above to learn more.

News & Events News & Events

News

Stem Cell Transplant Helps People with Severe Scleroderma
January 24, 2018

GARD Answers GARD Answers

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