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Disease Profile
Dermatofibrosarcoma protuberans
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.
1-5 / 10 000
Age of onset
All ages
ICD-10
C49.9
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)
DFSP; Giant cell fibroblastoma; Familial dermatofibrosarcoma protuberans (subtype);
Categories
Congenital and Genetic Diseases; Rare Cancers; Skin Diseases
Summary
Dermatofibrosarcoma protuberans is an uncommon
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 | ||
Erythema | 0010783 | |
Fibrosarcoma | 0100244 | |
Skin tumors
Tumor of the skin
[ more ] |
0008069 | |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
Thickened skin |
Thick skin
|
0001072 |
30%-79% of people have these symptoms | ||
Skin ulcer |
Open skin sore
|
0200042 |
Cause
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Imatinib mesylate(Brand name: Gleevec®) Manufactured by Novartis Pharmaceuticals Corp.
FDA-approved indication: Treatment of adult patients with unresectable, recurrent and/or metastatic dermatofibrosarcoma protuberans (DFSP)
National Library of Medicine Drug Information Portal
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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The differential diagnosis should include fibrosarcoma (see this term), dermatofibroma, neurofibroma, and other soft tissue tumors.
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
-
Sarcoma Alliance for Research through Collaboration (SARC)
24 Frank Lloyd Wright Drive
Lobby A, Suite 3100
Ann Arbor, MI 48105
Telephone: +1-734-930-7600
Fax: +1-734-930-7557
E-mail: sarc@sarctrials.org
Website: https://sarctrials.org -
The Liddy Shriver Sarcoma Initiative
17 Bethea Drive
Ossining, NY 10562-1620
Telephone: 914-762-3251
Website: https://sarcomahelp.org/ -
The Skin Cancer Foundation
149 Madison Avenue Suite 901
New York, NY 10016
Telephone: 212-725-5176
Website: https://www.skincancer.org/
Organizations Providing General Support
-
American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org -
CancerCare
275 Seventh Ave, Floor 22
New York, NY 10001
Toll-free: 800-813-HOPE
Fax: 212-712-8495
E-mail: info@cancercare.org
Website: https://www.cancercare.org/
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
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Genetics Home Reference (GHR) contains information on Dermatofibrosarcoma protuberans. This website is maintained by the National Library of Medicine.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Dermatofibrosarcoma protuberans. Click on the link to view a sample search on this topic.
References
- Dermatofibrosarcoma protuberans. DermNet New Zealand Trust. September, 2015; https://www.dermnetnz.org/lesions/dfsp.html. Accessed 2/9/2016.
- Dermatofibrosarcoma Protuberans. Genetics Home Reference. September, 2011; https://ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans. Accessed 2/9/2016.
- Chen, Chih-Shan Jason. Dermatofibrosarcoma protuberans. Medscape Reference. November, 2015; https://emedicine.medscape.com/article/1100203-overview. Accessed 2/9/2016.
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