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Disease Profile

Localized 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.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

All ages

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ICD-10

L94.0

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)

Scleroderma, localized; Localized fibrosing scleroderma

Categories

Skin Diseases

Summary

Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard.[1] Localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected by localized scleroderma, and localized scleroderma can never progress to the systemic form of the disease. Often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. For some people, localized scleroderma is serious and disabling.[2]

There are two generally recognized types of localized scleroderma: morphea and linear.[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
Cigarette-paper scars
'cigarette paper scarring'
Cigarette paper scarring

[ more ]

 0001073
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypopigmentation of the skin
Patchy lightened skin
0001010
Stiff skin
0030053
30%-79% of people have these symptoms
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

 0003202
5%-29% of people have these symptoms
Arthralgia
Joint pain
0002829
Flexion contracture of toe
0005830
Hemiatrophy of lower limb
Asymmetric lower limb shortening
0100557
Hemiatrophy of upper limb
Asymmetric upper limb shortening
0100558
Lipoatrophy
Loss of fat tissue in localized area
0100578
Myalgia
Muscle ache
Muscle pain

[ more ]

 0003326
Scarring alopecia of scalp
0004552
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand

[ more ]

 0001171
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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.

    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.

      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.
      • 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 Localized scleroderma. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. Localized Scleroderma. Scleroderma Foundation. https://www.scleroderma.org/site/DocServer/Localized.pdf?docID=317. Accessed 6/23/2011.
          2. . Scleroderma. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). May 2010; https://www.niams.nih.gov/Health_Info/Scleroderma/. Accessed 6/23/2011.