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There are more than 100 types of tumors that are clinically apparent on the skin; many of these are known to have familial components, either in isolation or as part of a syndrome with other features.This is, in part, because the skin itself is a complex organ made up of multiple cell types.

Refer to the Cancer Genetics Overview summary for more information about variant classification.

Note: Many of the genes described in this summary are found in the Online Mendelian Inheritance in Man (OMIM) database.

These cells can increase in number in inflammatory diseases and can form tumors within the skin.

For example, urticaria pigmentosa is a condition that arises from mast cells and is occasionally associated with mast cell leukemia; cutaneous T-cell lymphoma is often confined to the skin throughout its course.

Melanocytes are derived from neural crest cells and migrate to the epidermal compartment near the eighth week of gestational age.

Langerhans cells, or dendritic cells, are another cell type in the epidermis and have a primary function of antigen presentation.

Note: A concerted effort is being made within the genetics community to shift terminology used to describe genetic variation.

The shift is to use the term “variant” rather than the term “mutation” to describe a difference that exists between the person or group being studied and the reference sequence.

When OMIM appears after a gene name or the name of a condition, click on OMIM for a link to more information.

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