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Genetics Home Reference: your guide to understanding genetic conditions
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Piebaldism

Reviewed February 2013

What is piebaldism?

Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented.

People with piebaldism usually have other unpigmented patches of skin, typically appearing symmetrically on both sides of the body. There may be spots or patches of pigmented skin within or around the borders of the unpigmented areas.

In most cases, the unpigmented areas are present at birth and do not increase in size or number. The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure. Some people with piebaldism are self-conscious about the appearance of the unpigmented patches, which may be more noticeable in darker-skinned people. Aside from these potential issues, this condition has no effect on the health of the affected individual.

How common is piebaldism?

The prevalence of piebaldism is unknown.

What genes are related to piebaldism?

Piebaldism can be caused by mutations in the KIT and SNAI2 genes. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional signs and symptoms.

The KIT gene provides instructions for making a protein that is involved in signaling within cells. KIT protein signaling is important for the development of certain cell types, including melanocytes. The KIT gene mutations responsible for piebaldism lead to a nonfunctional KIT protein. 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 SNAI2 gene (often called SLUG) provides instructions for making a protein called snail 2. Research indicates that the snail 2 protein is required during embryonic growth for the development of cells called neural crest cells. Neural crest cells migrate from the developing spinal cord to specific regions in the embryo and give rise to many tissues and cell types, including melanocytes. The snail 2 protein probably plays a role in the formation and survival of melanocytes. SNAI2 gene mutations that cause piebaldism probably reduce the production of the snail 2 protein. Shortage of the snail 2 protein may disrupt the development of melanocytes in certain areas of the skin and hair, causing the patchy loss of pigment.

Piebaldism is sometimes mistaken for another condition called vitiligo, which also causes unpigmented patches of skin. People are not born with vitiligo, but acquire it later in life, and it is not caused by specific genetic mutations. For unknown reasons, in people with vitiligo the immune system appears to damage the melanocytes in the skin.

Related Gene(s)

Changes in these genes are associated with piebaldism.

  • KIT
  • SNAI2

How do people inherit piebaldism?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of piebaldism?

These resources address the diagnosis or management of piebaldism and may include treatment providers.

  • Genetic Testing Registry: Partial albinism (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0080024)

You might also find information on the diagnosis or management of piebaldism in Educational resources (http://ghr.nlm.nih.gov/condition/piebaldism/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/piebaldism/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about piebaldism?

You may find the following resources about piebaldism helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for piebaldism?

  • PBT
  • piebald trait

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about piebaldism?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding piebaldism?

autosomal ; autosomal dominant ; cancer ; cell ; embryo ; embryonic ; gene ; immune system ; inherited ; melanin ; melanocytes ; neural crest ; pigment ; pigmentation ; prevalence ; proliferation ; protein ; syndrome ; trait

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x. Epub 2009 Jun 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19555431?dopt=Abstract)
  • Ezoe K, Holmes SA, Ho L, Bennett CP, Bolognia JL, Brueton L, Burn J, Falabella R, Gatto EM, Ishii N, et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet. 1995 Jan;56(1):58-66. (http://www.ncbi.nlm.nih.gov/pubmed/7529964?dopt=Abstract)
  • López V, Jordá E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011 Feb 15;17(2):13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21382296?dopt=Abstract)
  • Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, González-Sánchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sánchez-García I. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct 1;122A(2):125-32. (http://www.ncbi.nlm.nih.gov/pubmed/12955764?dopt=Abstract)
  • Spritz RA, Giebel LB, Holmes SA. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet. 1992 Feb;50(2):261-9. (http://www.ncbi.nlm.nih.gov/pubmed/1370874?dopt=Abstract)
  • Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol. 1994 Nov;103(5 Suppl):137S-140S. Review. (http://www.ncbi.nlm.nih.gov/pubmed/7525736?dopt=Abstract)
  • Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997 Mar;16(1):15-23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9125761?dopt=Abstract)
  • Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: an update. Int J Dermatol. 2004 Oct;43(10):716-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15485525?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2013
Published: October 9, 2014