What is Piebaldism?
Piebaldism is a rare genetic condition where melanocytes (cells that produce the skin melanin pigment) are absent in regions of the skin. This causes regions of the skin to be absent of any melanin, making pale-colored patches around a person's body. There's also usually a patch of pale-colored skin and white-colored hair present at the top of an affected individual's forehead (known as the forelock). These symptoms are present at birth and remain for the rest of the individual's life [1,2]. Piebaldism is often caused by a mutation in the KIT gene, or the SNAI2 gene [3].
Though they may seem similar from a glance, piebaldism is distinct from other skin pigment disorders such as vitiligo or albinism. Unlike vitiligo, piebaldism symptoms typically do no advance throughout an individual's lifetime, and unlike albinism, individuals with piebaldism still have some cells that are able to produce melanin. |
Source: https://www.pcds.org.uk/clinical-guidance/piebaldism1
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Treatments
There is no treatment to "reverse" the hypopigmentation of piebaldism. Hypopigmented areas of piebaldism often burn easier in sunlight, so sunscreen is typically applied to prevent intense sunburns or skin cancer.
Some individuals may choose to undergo cosmetic surgery such as with skin grafting, but others choose not to [4].
Some individuals may choose to undergo cosmetic surgery such as with skin grafting, but others choose not to [4].
The KIT Gene
Piebaldism is an autosomal dominant mutation in the Proto-oncogene c-KIT (KIT) gene. If one parent has piebaldism, then some or all of their children will likely have piebaldism as well.
The KIT gene encodes a protein that consists of a cytoplasmic tyrosine kinase complex, and intermembrane region, and an extracellular chain of several immunoglobulin repeats. It's known that mutations that affect KIT function can lead to piebaldism, but it is not known why the reduced function of KIT causes the patterns of pigmentation in individuals with piebaldism [1].
The KIT gene encodes a protein that consists of a cytoplasmic tyrosine kinase complex, and intermembrane region, and an extracellular chain of several immunoglobulin repeats. It's known that mutations that affect KIT function can lead to piebaldism, but it is not known why the reduced function of KIT causes the patterns of pigmentation in individuals with piebaldism [1].
Resources
Though there are no direct foundations for individuals with piebaldism, but there are several resources for individuals with rare genetics conditions, such as the Every Life Foundation for Rare Diseases, Genetics Alliance, and the National Organization for Rare Disorders.
[1] Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., Ishii, N., Moss, C., Pittelkow, M. R., Thompson, E., Ward, K. A., & Spritz, R. A. (1995). Novel mutations and Deletions of the KIT (Steel Factor Receptor) Gene in Human Piebaldism. American Journal of Human Genetics, 56(1), 58–66. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801299
[2] Giebel, L. B., & Spritz, R. A. (1991). Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proceedings of the National Academy of Sciences, 88(19), 8696–8699. https://doi.org/10.1073/pnas.88.19.8696
[3] U.S. National Library of Medicine. (n.d.). Piebaldism. MedlinePlus. https://medlineplus.gov/genetics/condition/piebaldism/
[4] Price, K. L. (2022, September 16). Piebaldism: What you need to know. Healthgrades. https://www.healthgrades.com/right-care/skin-hair-and-nails/piebaldism
[2] Giebel, L. B., & Spritz, R. A. (1991). Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proceedings of the National Academy of Sciences, 88(19), 8696–8699. https://doi.org/10.1073/pnas.88.19.8696
[3] U.S. National Library of Medicine. (n.d.). Piebaldism. MedlinePlus. https://medlineplus.gov/genetics/condition/piebaldism/
[4] Price, K. L. (2022, September 16). Piebaldism: What you need to know. Healthgrades. https://www.healthgrades.com/right-care/skin-hair-and-nails/piebaldism
This web page was produced as an assignment for Genetics 564, a capstone course at UW-Madison.
Samuel Kivi | [email protected] | Last updated 4/11/24
Samuel Kivi | [email protected] | Last updated 4/11/24