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

Familial atypical multiple mole melanoma syndrome


Not a rare disease Not a rare disease
Other Names:
B-K mole syndrome; FAMM-PC syndrome; FAMMM syndrome; B-K mole syndrome; FAMM-PC syndrome; FAMMM syndrome; Familial atypical multiple mole melanoma-pancreatic carcinoma; Familial Clark nevus syndrome; Familial atypical mole syndrome; Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome; Familial dysplastic nevus syndrome; Melanoma-pancreatic cancer syndrome; Familial Atypical Mole Melanoma Syndrome See More
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Familial atypical multiple mole melanoma syndrome (FAMMM syndrome) is an inherited condition characterized by the presence of multiple moles.[1][2] Atypical moles, also called dysplastic nevi, are benign but are associated with an increased risk of melanoma.[3] They can occur sporadically (with no other cases in a family), but are a symptom of FAMMM when multiple family members are affected.[3] FAMMM syndrome may also increase the risk of pancreatic cancer in addition to melanoma. FAMMM syndrome is marked by:[1][2]
  • one or more 1st or 2nd degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma;
  • many moles, some of which are atypical (asymmetrical, raised, or different shades of color) and often of different sizes; and
  • moles that have specific features when examined under a microscope.
FAMMM syndrome may be caused by mutations in the CDKN2A gene (in about 40% of cases) or CDK4 gene (in very rare cases). However, in about 60% of cases, the cause is unknown.[4][5] Inheritance is autosomal dominant.[4][1] Treatment for FAMMM syndrome typically involves surgery. Family members of people with this condition should have surveillance at periodic intervals for melanoma.[1][5]
Last updated: 3/7/2017

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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Melanoma 0002861
Oropharyngeal squamous cell carcinoma 0012182
Pancreatic adenocarcinoma 0006725
Pancreatic squamous cell carcinoma 0012142
Sarcoma
Cancer of connective tissue
Malignant connective tissue tumor
[ more ]
0100242
Squamous cell carcinoma 0002860
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Last updated: 7/1/2020

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
Differential diagnoses include cutaneous neurofibromas and pancreatic ductal adenocarcinoma as well as Neurofibromatosis type 1 (see this term).
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 Familial atypical multiple mole melanoma syndrome. 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


Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.

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.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.

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.


  1. Familial atypical multiple mole melanoma syndrome. Orphanet. 2015; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=22939.
  2. Familial atypical multiple mole melanoma syndrome. NCI Dictionary of Cancer Terms. https://www.cancer.gov/publications/dictionaries/cancer-terms?cdrid=270857.
  3. Perkins A & Duffy L. Atypical Moles: Diagnosis and Management. Amer Family Physician. June, 2015; http://www.aafp.org/afp/2015/0601/p762.html.
  4. Soura E, Eliades P, Shannon K, Stratigos A & Tsao H. Hereditary Melanoma: Update on Syndromes and Management - Genetics of familial atypical multiple mole melanoma syndrome. Journal of the American Academy of Dermatology. 2016; 74(3):395-407. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4761105/.
  5. Lynch HT & Shaw TG. Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity. Fam Cancer. 2016; 15:487. https://www.ncbi.nlm.nih.gov/pubmed/26892865.