Dermatofibrosarcoma protuberans

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ORPHA:31112OMIM:607907C49.9
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3FDA treatments36Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Dermatofibrosarcoma protuberans, often called DFSP, is a rare type of skin cancer that starts in the deep layers of the skin. It usually appears as a firm, raised patch or lump on the skin that grows slowly over months or years. DFSP most often shows up on the trunk (chest, back, or abdomen), but it can also appear on the arms, legs, head, or neck. The tumor is made up of abnormal cells that grow in a web-like pattern, which allows them to spread into nearby tissue and makes them tricky to remove completely. The most important thing to know about DFSP is that it very rarely spreads to other parts of the body (metastasizes), but it has a strong tendency to grow back after surgery if it is not removed with wide enough margins. Early on, DFSP can look like a harmless scar, bruise, or skin discoloration, which is why it is often mistaken for something less serious and may go undiagnosed for years. Treatment usually involves surgery to remove the tumor with a large border of healthy tissue around it. A specialized surgical technique called Mohs micrographic surgery is often preferred because it removes the tumor layer by layer while checking the edges under a microscope, reducing the chance of it coming back. For tumors that cannot be fully removed with surgery, or that have spread, a targeted drug called imatinib (Gleevec) is FDA-approved and works well for most patients. The overall outlook for DFSP is generally good when it is caught and treated early.

Also known as:

Key symptoms:

A firm, raised lump or nodule on the skinA flat, discolored patch of skin that looks like a scar or bruiseSlow-growing skin growth that may have been present for yearsSkin that feels hard or rubbery to the touchA bump that may be skin-colored, reddish, brownish, or purplishTenderness or mild pain around the growthA growth that keeps coming back after being removedSkin that appears puckered or dimpled around the lumpGradual increase in the size of a skin lesion over time

Clinical phenotype terms (8)— hover any for plain English
FibrosarcomaHP:0100244
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events
Jan 2026Dose-escalated, Hypofractionated, Definitive Proton Radiotherapy for Patients With Inoperable Soft Tissue Sarcoma.

Oslo University Hospital — PHASE2

TrialRECRUITING
Oct 2024NIFR Image-guided Surgery for Malignant Soft Tissue Tumor With Low-dose SWIG Technique

The Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College — PHASE1

TrialNOT YET RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

3 available

Imatinib Mesylate

IMATINIB· Mylan Institutional Inc

Adult patients with unresectable, recurrent and/or metastatic dermatofibrosarcoma protuberans (DFSP).

Imkeldi

IMATINIB ORAL· Shorla Oncology Inc.,

Adult patients with unresectable, recurrent and/or metastatic dermatofibrosarcoma protuberans (DFSP).

Imatinib Mesylate

IMATINIB MESYLATE· Apotex Corp

Adult patients with unresectable, recurrent and/or metastatic dermatofibrosarcoma protuberans (DFSP)

No actively recruiting trials found for Dermatofibrosarcoma protuberans at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Dermatofibrosarcoma protuberans community →

Specialists

Showing 25 of 36View all specialists →
SM
Selma Ugurel, MD
Specialist
PI on 1 active trial
RR
Randall K Roenigk
ROCHESTER, MN
Specialist
PI on 1 active trial2 Dermatofibrosarcoma protuberans publications
SM
Sandra D'Angelo, MD
SPRINGFIELD, MO
Specialist
PI on 4 active trials
IP
Ivar Hompland, MD, PhD
Specialist
PI on 2 active trials
KP
Kjetil Boye, MD, PhD
Specialist
PI on 2 active trials
CH
Candace L Haddox
BOSTON, MA
Specialist
PI on 1 active trial
MM
Margaret von Mehren
Specialist
PI on 4 active trials1 Dermatofibrosarcoma protuberans publication
RP
Robert Maki, MD, PhD
PHILADELPHIA, PA
Specialist
PI on 8 active trials
SP
Scott Schuetze, MD, PhD
ANN ARBOR, MI
Specialist
PI on 3 active trials
EM
Edmund Bartlett, MD
Specialist
PI on 1 active trial
AW
Aaron R Weiss
Specialist
PI on 1 active trial56 Dermatofibrosarcoma protuberans publications
SS
Scott Schuetze
ANN ARBOR, MI
Specialist
PI on 3 active trials
SM
Sheri Spunt, MD
MEMPHIS, TN
Specialist
PI on 1 active trial
DM
Dirk Schadendorf, MD
Specialist
PI on 2 active trials
MD
Mark Dickson
Specialist
PI on 1 active trial2 Dermatofibrosarcoma protuberans publications
BP
Brian A Van Tine, M.D., Ph.D.
Specialist
PI on 2 active trials
VP
Vishruth Reddy, MD, PhD
LOS ANGELES, CA
Specialist
PI on 1 active trial
MM
Mary L. Keohan, MD
NEW YORK, NY
Specialist
PI on 1 active trial
AP
Antoine ADENIS, MD, PhD
Specialist
PI on 2 active trials
RC
Rashmi Chugh
ANN ARBOR, MI
Specialist
PI on 1 active trial12 Dermatofibrosarcoma protuberans publications
LD
Lara E Davis
Specialist
PI on 2 active trials34 Dermatofibrosarcoma protuberans publications
MG
Mrinal Gounder
NEW YORK, NY
Specialist
PI on 1 active trial2 Dermatofibrosarcoma protuberans publications
IM
Ileana Elias, M.D.
Specialist
PI on 2 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Dermatofibrosarcoma protuberans.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Dermatofibrosarcoma protuberans

Disease timeline:

New recruiting trial: Dose-escalated, Hypofractionated, Definitive Proton Radiotherapy for Patients With Inoperable Soft Tissue Sarcoma.

A new clinical trial is recruiting patients for Dermatofibrosarcoma protuberans

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Was my tumor completely removed, and what were the surgical margins?,What is my risk of this tumor coming back, and how will we monitor for that?,Should I have Mohs surgery, and is that available at this center?,Does my tumor have the COL1A1-PDGFB gene fusion, and does that affect my treatment options?,How often do I need follow-up appointments, and what should I watch for between visits?,If the tumor comes back, what are my treatment options?,Are any of my family members at increased risk for this condition?

Common questions about Dermatofibrosarcoma protuberans

What is Dermatofibrosarcoma protuberans?

Dermatofibrosarcoma protuberans, often called DFSP, is a rare type of skin cancer that starts in the deep layers of the skin. It usually appears as a firm, raised patch or lump on the skin that grows slowly over months or years. DFSP most often shows up on the trunk (chest, back, or abdomen), but it can also appear on the arms, legs, head, or neck. The tumor is made up of abnormal cells that grow in a web-like pattern, which allows them to spread into nearby tissue and makes them tricky to remove completely. The most important thing to know about DFSP is that it very rarely spreads to other p

How is Dermatofibrosarcoma protuberans inherited?

Dermatofibrosarcoma protuberans follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Dermatofibrosarcoma protuberans typically begin?

Typical onset of Dermatofibrosarcoma protuberans is adult. Age of onset can vary across affected individuals.

Which specialists treat Dermatofibrosarcoma protuberans?

25 specialists and care centers treating Dermatofibrosarcoma protuberans are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.