Research indicates that the snail 2 protein is required during embryonic growth for the development of cells called neural crest cells. The SNAI2 gene (often called SLUG) provides instructions for making a protein called snail 2. The loss of KIT signaling is thought to disrupt the growth and division (proliferation) and movement (migration) of melanocytes during development, resulting in patches of skin that lack pigmentation. The KIT gene mutations responsible for piebaldism lead to a nonfunctional KIT protein. KIT protein signaling is important for the development of certain cell types, including melanocytes. The KIT gene provides instructions for making a protein that is involved in signaling within cells. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome these conditions have other genetic causes and additional signs and symptoms. Piebaldism can be caused by mutations in the KIT and SNAI2 genes.
Aside from these potential issues, this condition has no effect on the health of the affected individual. Some people with piebaldism are self-conscious about the appearance of the unpigmented patches, which may be more noticeable in darker-skinned people. The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure. In most cases, the unpigmented areas are present at birth and do not increase in size or number. There may be spots or patches of pigmented skin within or around the borders of the unpigmented areas. People with piebaldism usually have other unpigmented patches of skin, typically appearing symmetrically on both sides of the body. The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color.
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair.
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