FAMMM syndrome

Familial Atypical Multiple Mole Melanoma Syndrome
Synonyms	FAMMM syndrome, Dysplastic Nevus Syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Multiple atypical moles, increased risk of melanoma
Complications	Melanoma, Pancreatic cancer
Onset	Typically in adolescence or early adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations, often in the CDKN2A gene
Risks	Family history of melanoma
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Regular skin examinations, surgical removal of suspicious moles
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM syndrome), also known as Dysplastic Nevus Syndrome, is a hereditary condition characterized by the presence of multiple atypical moles (nevi) and an increased risk of developing melanoma, a serious form of skin cancer. Individuals with FAMMM syndrome often have a family history of melanoma and may also be at increased risk for other cancers, such as pancreatic cancer.

Genetics

FAMMM syndrome is primarily associated with mutations in the CDKN2A gene, which plays a crucial role in regulating the cell cycle. This gene encodes proteins that help control cell division and prevent cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in CDKN2A can lead to a loss of this regulatory function, increasing the risk of cancer development.

Clinical Features

Individuals with FAMMM syndrome typically present with:

• Multiple atypical moles, often larger than normal moles and with irregular borders and coloration.
• A family history of melanoma, often involving multiple family members across generations.
• An increased risk of developing melanoma, often at a younger age than the general population.

Diagnosis

Diagnosis of FAMMM syndrome is based on clinical criteria, including the presence of multiple atypical moles and a family history of melanoma. Genetic testing can confirm the diagnosis by identifying mutations in the CDKN2A gene or other related genes.

Management

Management of FAMMM syndrome involves:

• Regular skin examinations by a dermatologist to monitor for changes in existing moles and the development of new moles.
• Education on self-examination techniques to help individuals identify suspicious moles early.
• Surgical removal of moles that appear atypical or have changed over time.
• Genetic counseling for affected individuals and their families to discuss the risks and implications of the syndrome.

Prognosis

With vigilant monitoring and early intervention, individuals with FAMMM syndrome can manage their risk of melanoma. However, they remain at increased risk for melanoma and potentially other cancers throughout their lives.

Also see

• Melanoma
• Dysplastic nevus
• Genetic counseling
• Skin cancer
• CDKN2A