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<span>Piebaldism</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/piebaldism/</span>
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<article>
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<div class="page-title">
<a name="start" id="start"></a>
<h1>Piebaldism</h1>
</div>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Piebaldism is a condition characterized by the absence of cells called <a class="image-modal" data-alt="Illustration of the parts of a melanocyte" data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX000158_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000158" data-sourceurl="" data-title="Melanocyte" href="https://medlineplus.gov/images/PX000158_PRESENTATION.jpeg" id="PX000158_1" title="Show image">melanocytes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> 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.</p><p>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.</p><p>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.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>The prevalence of piebaldism is unknown.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Piebaldism can be caused by mutations in the <i><a data-pid="18825" href="https://medlineplus.gov/genetics/gene/kit/">KIT</a></i> and <i><a data-pid="17293" href="https://medlineplus.gov/genetics/gene/snai2/">SNAI2</a></i> genes. Piebaldism may also be a feature of other conditions, such as <a data-pid="14535" href="https://medlineplus.gov/genetics/condition/waardenburg-syndrome/">Waardenburg syndrome</a>; these conditions have other genetic causes and additional signs and symptoms.</p><p>The <i>KIT</i> 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 <a class="image-modal" data-alt="Illustration of the parts of a melanocyte" data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX000158_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000158" data-sourceurl="" data-title="Melanocyte" href="https://medlineplus.gov/images/PX000158_PRESENTATION.jpeg" id="PX000158_4" title="Show image">melanocytes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The <i>KIT</i> 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.</p><p>The <i>SNAI2</i> gene (often called <i>SLUG</i>) 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. <i>SNAI2</i> 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.</p><p>Piebaldism is sometimes mistaken for another condition called <a data-pid="15535" href="https://medlineplus.gov/genetics/condition/vitiligo/">vitiligo</a>, 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.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes associated with Piebaldism</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/kit/">KIT</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/snai2/">SNAI2</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_1" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered gene in each cell is sufficient to cause the disorder.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>PBT</li> <li>Piebald trait</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0080024/" target="TheNewWin">Genetic Testing Registry: Piebaldism</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/4344/index" target="TheNewWin">Piebaldism</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Piebaldism%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/172800" target="TheNewWin">PIEBALD TRAIT; PBT</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28piebaldism%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>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. <a href="https://pubmed.ncbi.nlm.nih.gov/19555431" target="TheNewWin">Citation on PubMed</a></li>
<li>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. <a href="https://pubmed.ncbi.nlm.nih.gov/7529964" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801299/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Lopez V, Jorda E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011 Feb
15;17(2):13. <a href="https://pubmed.ncbi.nlm.nih.gov/21382296" target="TheNewWin">Citation on PubMed</a></li>
<li>Sanchez-Martin M, Perez-Losada J, Rodriguez-Garcia A, Gonzalez-Sanchez B, Korf
BR, Kuster W, Moss C, Spritz RA, Sanchez-Garcia I. Deletion of the SLUG (SNAI2)
gene results in human piebaldism. Am J Med Genet A. 2003 Oct 1;122A(2):125-32.
doi: 10.1002/ajmg.a.20345. <a href="https://pubmed.ncbi.nlm.nih.gov/12955764" target="TheNewWin">Citation on PubMed</a></li>
<li>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. <a href="https://pubmed.ncbi.nlm.nih.gov/1370874" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682440/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol. 1994
Nov;103(5 Suppl):137S-140S. doi: 10.1111/1523-1747.ep12399455. <a href="https://pubmed.ncbi.nlm.nih.gov/7525736" target="TheNewWin">Citation on PubMed</a></li>
<li>Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of
melanocyte development. Semin Cutan Med Surg. 1997 Mar;16(1):15-23. doi:
10.1016/s1085-5629(97)80031-4. <a href="https://pubmed.ncbi.nlm.nih.gov/9125761" target="TheNewWin">Citation on PubMed</a></li>
<li>Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: an
update. Int J Dermatol. 2004 Oct;43(10):716-9. doi:
10.1111/j.1365-4632.2004.02114.x. No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/15485525" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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data-title="Skin anatomy with melanocyte"
data-caption="Anatomy of the skin, showing the epidermis, dermis, and subcutaneous tissue. Melanocytes are in the layer of basal cells at the deepest part of the epidermis."
data-credit="© 2008 Terese Winslow LLC for the National Cancer Institute"
data-alt="Anatomy of the skin, showing the epidermis, dermis, and subcutaneous tissue. Melanocytes are in the layer of basal cells at the deepest part of the epidermis."
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