Rare Pulmonology News

Disease Profile

Scleroderma

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

#N/A

ICD-10

#N/A

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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Categories

Connective tissue diseases

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]

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]

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
Abnormal stomach morphology
0002577
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
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
Death of body tissue due to lack of blood flow or infection
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
Stiff lung or chest wall causing decreased lung volume
0002091
Skin ulcer
Open skin sore
0200042
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

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
Calcium deposits in joints
0000934
Cranial nerve paralysis
0006824
Decreased nerve conduction velocity
0000762
Feeding difficulties in infancy
0008872
Hyperkeratosis
0000962
Hypopigmented skin patches
Patchy loss of skin color
0001053
Malabsorption
Intestinal malabsorption
0002024
Mucosal telangiectasiae
0100579
Myocardial infarction
Heart attack
0001658
Myositis
Muscle inflammation
0100614
Nephropathy
0000112
Papule
0200034
Pericarditis
Swelling or irritation of membrane around heart
0001701
Pulmonary fibrosis
0002206
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
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 rectum morphology
Abnormality of the rectum
Anomaly of the rectum

[ more ]

0002034
Abnormal tendon morphology
Abnormal shape of tendon
0100261
Abnormality of the anus
0004378
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 dysfunction
Abnormal erection
Erectile abnormalities

[ more ]

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
Breakdown of bone
0002797
Osteomyelitis
Bone infection
0002754
Peripheral neuropathy

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]

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.

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

    Organizations Providing General Support

      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

            References

            1. Borigini MJ. Scleroderma. MedlinePlus. 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000429.htm.
            2. Scleroderma. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). 2010; https://www.niams.nih.gov/Health_Info/Scleroderma/default.asp.
            3. Denton CP. Overview and classification of scleroderma disorders. UpToDate. 2016; https://www.uptodate.com/contents/overview-and-classification-of-scleroderma-disorders.
            4. Localized scleroderma. Orphanet. July, 2010; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12000.
            5. Scleroderma. MayoClinic.com. 2008; https://www.mayoclinic.com/print/scleroderma/DS00362/DSECTION=all&METHOD=print.
            6. Denton CP. Overview of the treatment and prognosis of systemic sclerosis (scleroderma) in adults. In: Basow M, ed. UpToDate. Waltham, MA: UpToDate; 2014;
            7. Scleroderma Program. University of Michigan Health System. https://www.med.umich.edu/scleroderma/patients/guidelines.htm.

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