National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dermatofibrosarcoma protuberans


Other Names:
DFSP; Giant cell fibroblastoma; Familial dermatofibrosarcoma protuberans (subtype); DFSP; Giant cell fibroblastoma; Familial dermatofibrosarcoma protuberans (subtype); Metastatic dermatofibrosarcoma protuberans (subtype) See More
Categories:
Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence.[1][2][3]
Last updated: 2/9/2016

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Erythema 0010783
Fibrosarcoma 0100244
Neoplasm of the skin
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
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Last updated: 7/1/2020
The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor.[1] Trauma at the affected site has been reported in approximately 10-20% of patients. [3] Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22 which results in the fusion of two genes. The fused gene produces a protein which some believe may stimulate cells to multiply, leading to the tumor formation seen in dermatofibrosarcoma protuberans. This type of gene change is generally found only in tumor cells and is not inherited.[2]
Last updated: 2/17/2016

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.

Regular follow-up is needed after tumor removal to monitor for recurrence.[1] Local recurrences arise in 11-20% of cases, usually within three years of the initial surgery. Despite being locally aggressive, the tumor spreads to other parts of the body (metastasizes) in only 5% of cases.[1][3] A small subset of patients with DFSP have a more aggressive variant known as fibrosarcomatous dermatofibrosarcoma protuberans or FS-DFSP. FS-DFSP tumors are more likely to metastasize than the tumors in other types of dermatofibrosarcoma protuberans.[2][3]
Last updated: 2/17/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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
The differential diagnosis should include fibrosarcoma (see this term), dermatofibroma, neurofibroma, and other soft tissue tumors.
Visit the Orphanet disease page for more information.

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 Dermatofibrosarcoma protuberans. 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.

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My husband had dermatofibrosarcoma protuberans on his thigh. Will it spread to other parts of the body by the lymph; If it spreads, what are the symptoms? Can dermatofibrosarcoma affect heart, lungs, liver, kidney or other internal organs? If so, what are the symptoms? Can any symptoms be found during a complete body checkup before it spreads? See answer

  • My husband had a mole on his leg and a biopsy confirmed that it is a dermatofibrosarcoma protuberans.  Is this very harmful like other cancers?  Is there any chance it could spread to other parts of the body?  What is the chance for recurrence?  What are the available treatments?  Are there precautions to take to avoid recurrence? See answer


  1. Dermatofibrosarcoma protuberans. DermNet New Zealand Trust. September, 2015; http://www.dermnetnz.org/lesions/dfsp.html. Accessed 2/9/2016.
  2. Dermatofibrosarcoma Protuberans. Genetics Home Reference. September, 2011; http://ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans. Accessed 2/9/2016.
  3. Chen, Chih-Shan Jason. Dermatofibrosarcoma protuberans. Medscape Reference. November, 2015; http://emedicine.medscape.com/article/1100203-overview. Accessed 2/9/2016.