Familial atypical multiple mole melanoma syndrome

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ORPHA:404560OMIM:155600C43.9
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1FDA treatments4Active trials10Specialists8Treatment centers

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Overview

Familial Atypical Multiple Mole Melanoma syndrome, often called FAMMM syndrome or Dysplastic Nevus Syndrome, is an inherited condition that greatly increases a person's risk of developing melanoma, the most serious type of skin cancer. People with FAMMM syndrome typically have a large number of moles (often 50 or more), and many of these moles look unusual or "atypical" — they may be larger than normal, have irregular borders, or show uneven coloring. The condition runs in families, and at least one close relative (parent, sibling, or child) will also have had melanoma. Beyond skin melanoma, people with FAMMM syndrome may also face a higher risk of other cancers, particularly pancreatic cancer. Some families carry changes in the CDKN2A gene, which normally helps control cell growth. When this gene is not working properly, cells can grow out of control and become cancerous. There is currently no cure for FAMMM syndrome itself, but early detection and prevention are very effective. Regular full-body skin exams by a dermatologist, self-skin checks at home, sun protection, and in some cases pancreatic cancer screening can significantly improve outcomes. When melanoma is caught early, it is highly treatable. Management focuses on lifelong surveillance and prompt removal of any suspicious moles or skin changes.

Also known as:

Key symptoms:

Large number of moles (often 50 or more)Moles that look unusual with irregular shape, uneven color, or blurry bordersMoles that are larger than a pencil eraserNew moles appearing over timeMoles that change in size, shape, or colorDevelopment of melanoma skin cancer, sometimes at a young ageFamily history of melanoma in multiple relativesMoles appearing on areas not usually exposed to the sunIncreased risk of pancreatic cancer in some familiesPossible increased risk of other cancers such as breast cancer or eye melanoma

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

6 events
Feb 2025Effects of Anti-PD1 Adjuvant Checkpoint Blockade Immunotherapy on Atypical/Dysplastic Nevi

John Kirkwood

TrialRECRUITING
Apr 2023InAdvance: Surveillance, Prevention, and Interception in a Population at Risk for Cancer

Dana-Farber Cancer Institute

TrialRECRUITING
Aug 2019Registry of Subjects at Risk of Pancreatic Cancer

Associazione Italiana per lo Studio del Pancreas

TrialRECRUITING
Nov 2013BioMEL- Diagnostic and Prognostic Factors in Melanoma.

Region Skane

TrialRECRUITING
Sep 2013

Abraxane: FDA approved

Treatment of metastatic adenocarcinoma of the pancreas as first-line treatment, in combination with gemcitabine.

FDAcompleted
Jul 2002Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma

National Cancer Institute (NCI)

TrialRECRUITING

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

Treatments

1 available

Abraxane

paclitaxel protein-bound particles· Abraxis BioScience, LLC■ Boxed WarningOrphan Drug

Treatment of metastatic adenocarcinoma of the pancreas as first-line treatment, in combination with gemcitabine.

Clinical Trials

4 recruitingView all trials with filters →
Other4 trials
Effects of Anti-PD1 Adjuvant Checkpoint Blockade Immunotherapy on Atypical/Dysplastic Nevi
Actively Recruiting
PI: John M Kirkwood, MD (UPMC Hillman Cancer Center) · Sites: Pittsburgh, Pennsylvania · Age: 1899 yrs
BioMEL- Diagnostic and Prognostic Factors in Melanoma.
Actively Recruiting
PI: Kari Nielsen, Ass. Prof. (Lund University Cancer Centre) · Sites: Helsingborg, Skåne County; Kristianstad, Skåne County +2 more · Age: 1899 yrs
Registry of Subjects at Risk of Pancreatic Cancer
Actively Recruiting
· Sites: Rozzano, Milan; Peschiera del Garda, Verona +2 more · Age: 1880 yrs
Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma
Actively Recruiting
PI: Michael R Sargen, M.D. (National Cancer Institute (NCI)) · Sites: Bethesda, Maryland; Bethesda, Maryland · Age: 099 yrs

Specialists

10 foundView all specialists →
JM
John M Kirkwood, MD
Specialist
PI on 3 active trials
MM
Michael Goggins, MD
PHILADELPHIA, PA
Specialist
PI on 2 active trials
SM
Shaffer Mok, MD, MBS
TAMPA, FL
Specialist
PI on 1 active trial
RE
Rolf Ehrnström
Specialist
PI on 1 active trial
AM
Aimee Lucas, MD, MS
Specialist
PI on 1 active trial
ED
Emmanouil Papanastasiou, Dr.
Specialist
PI on 1 active trial
TG
Tapas K. Das Gupta
Specialist
PI on 1 active trial
IS
Igor V Samoylenko
Specialist
PI on 1 active trial
AD
Avi Dascalu
Specialist
PI on 1 active trial
CS
Cathy Shachaf
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

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Latest news about Familial atypical multiple mole melanoma syndrome

1 articles
Clinical trialCLINICALTRIALSApr 14, 2026
Trial Now Recruiting: Study of High-Precision Evaluation of Molecular ResiduaL Disease Through a PlatfOrm for Cancer TracKing and Interception (SHERLOCK) (NCT07524114)
Researchers are recruiting 7,000 cancer patients to test a new way of detecting cancer that comes back after treatment. By analyzing blood, tissue, and other bo
See all news about Familial atypical multiple mole melanoma syndrome

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.How often should I have full-body skin exams, and should I use total body photography?,Should I be screened for pancreatic cancer, and if so, how often and starting at what age?,Should my family members be tested for the CDKN2A gene mutation?,What specific signs should I watch for when doing self-skin exams at home?,Are there any clinical trials or new prevention strategies I should know about?,What sun protection measures are most important for me and my children?,How will having this syndrome affect my children's health, and when should they start screening?

Common questions about Familial atypical multiple mole melanoma syndrome

What is Familial atypical multiple mole melanoma syndrome?

Familial Atypical Multiple Mole Melanoma syndrome, often called FAMMM syndrome or Dysplastic Nevus Syndrome, is an inherited condition that greatly increases a person's risk of developing melanoma, the most serious type of skin cancer. People with FAMMM syndrome typically have a large number of moles (often 50 or more), and many of these moles look unusual or "atypical" — they may be larger than normal, have irregular borders, or show uneven coloring. The condition runs in families, and at least one close relative (parent, sibling, or child) will also have had melanoma. Beyond skin melanoma,

How is Familial atypical multiple mole melanoma syndrome inherited?

Familial atypical multiple mole melanoma syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Familial atypical multiple mole melanoma syndrome?

Yes — 4 recruiting clinical trials are currently listed for Familial atypical multiple mole melanoma syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Familial atypical multiple mole melanoma syndrome?

10 specialists and care centers treating Familial atypical multiple mole melanoma syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.