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Disease Profile

Familial atypical multiple mole melanoma syndrome

Prevalence
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.

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US Estimated

Europe Estimated

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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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.

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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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.

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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.

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Not applicable

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Other names (AKA)

B-K mole syndrome; FAMM-PC syndrome; FAMMM syndrome;

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

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]

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
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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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

    Organizations Providing General Support

      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.

      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.

        References

        1. Familial atypical multiple mole melanoma syndrome. Orphanet. 2015; https://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; https://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.