Menu
Home
People
Places
Arts
History
Plants & Animals
Science
Life & Culture
Technology
Reference.org
Piebaldism
open-in-new
<h2 id="genetics">Genetics</h2> <p>Piebaldism is an autosomal dominant<a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a> hereditary condition, which tends to produce high rates of inheritance and long chains of generational transmission. All who inherit the gene have at some time in life evidence of piebald hypopigmentation of the hair or skin, most likely both. </p><p>Piebaldism may be associated with the genes <i><a href="/facts/KIT_(gene)/Lku3gt0m">KIT</a></i><a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> or <i><a href="/facts/SNAI2/e5PruCFQ">SNAI2</a></i>.<a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> </p> <h2 id="diagnosis">Diagnosis</h2> <p>Usually diagnosed at birth with the appearance of patches of white skin on the arms, legs, stomach, forehead, and a white lock of hair. </p> <h2 id="history">History</h2> <p>Early photographers took many photographs of <a href="/facts/African_people/fLz5xGc5">African people</a> with piebaldism as a form of entertainment and exoticism, and <a href="/facts/George_Catlin/PnmVcKUE">George Catlin</a> is believed to have painted several portraits of <a href="/facts/Native_Americans_in_the_United_States/lr8Qmd6N">Native Americans</a> of the <a href="/facts/Mandan/xdaLkF5L">Mandan</a> tribe who were affected by piebaldism.<a class="footnote-ref" id="fnref:6" href="#fn:6"><sup>6</sup></a> </p><p>Historically, persons with extensive piebaldism have experienced abuse of the sort still suffered in the present by albinos, especially in Africa. This has ranged from display of unclothed African piebalds in "freak" shows and postcards of the early 20th century to the forcing of piebalds (as in the case of albinos) to work long hours exposed to the sun (producing high rates of lethal skin cancers), to the use of piebald humans, including children, in risky medical experiments. The National Organization of Albinism and Hypopigmentation, as well as organizations such as <a href="/facts/Under_the_Same_Sun/AAkydoQD">Under the Same Sun</a>, work to promote awareness of all forms of cutaneous variation and their medical implications, and to highlight human rights issues, especially the plight of albinos subject to extreme persecution in parts of Africa.<a class="footnote-ref" id="fnref:7" href="#fn:7"><sup>7</sup></a> </p> <h2 id="etymology">Etymology</h2> <p>The word "piebald" originates from a combination of "pie," from "<a href="/facts/Magpie/uNee6IsV">magpie</a>", and "bald", meaning "white patch" or spot.<a class="footnote-ref" id="fnref:8" href="#fn:8"><sup>8</sup></a> The reference is to the distinctive black-and-white plumage of the magpie.<a class="footnote-ref" id="fnref:9" href="#fn:9"><sup>9</sup></a> </p> <h2 id="see-also">See also</h2> <ul><li><a href="/facts/Albinism/o2FAg1UN">Albinism</a></li> <li><a href="/facts/Amelanism/WjNdvumt">Amelanism</a></li> <li><a href="/facts/Dyschromia/tmKsjp10">Dyschromia</a></li> <li><a href="/facts/Erythrism/mS8HYIde">Erythrism</a></li> <li><a href="/facts/Mosaic_(genetics)/AtyxgmDS">Mosaic (Genetics)</a></li> <li><a href="/facts/PAX3/zNsNrLtl">PAX3</a></li> <li><a href="/facts/Heterochromia_iridum/n7A8DFNc">Heterochromia iridum</a></li> <li><a href="/facts/Leucism/yJ9SXcLc">Leucism</a></li> <li><a href="/facts/Melanism/PmCo6EEk">Melanism</a></li> <li><a href="/facts/Piebald/KvDQ0u1A">Piebald</a></li> <li><a href="/facts/Poliosis/yhuwKjH1">Poliosis</a></li> <li><a href="/facts/Skewbald/YMBwbfkz">Skewbald</a></li> <li><a href="/facts/Vitiligo/d8xPRXQB">Vitiligo</a></li> <li><a href="/facts/Waardenburg_syndrome/qYgcC2WV">Waardenburg syndrome</a></li> <li><a href="/facts/Xanthochromism/tjlpv0l0">Xanthochromism</a></li></ul> <h2 id="external-links">External links</h2> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0. <a href="/wiki/ISBN_(identifier)" target="_blank">/wiki/ISBN_(identifier)</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>"Partial Albinism". Retrieved Jan 1, 2024. <a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0080024/" target="_blank">https://www.ncbi.nlm.nih.gov/gtr/conditions/C0080024/</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>MedlinePlus Encyclopedia: Autosomal dominant <a href="/wiki/MedlinePlus" target="_blank">/wiki/MedlinePlus</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>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): 8696–9. Bibcode:1991PNAS...88.8696G. doi:10.1073/pnas.88.19.8696. JSTOR 2358007. PMC 52576. PMID 1717985. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC52576" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC52576</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, et al. (October 2003). "Deletion of the SLUG (SNAI2) gene results in human piebaldism". Am. J. Med. Genet. A. 122A (2): 125–32. doi:10.1002/ajmg.a.20345. PMID 12955764. S2CID 33811699. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> <li id="fn:6"><p>Victor A. McKusick, Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, Volume 1 (Johns Hopkins University Press, 1428-1429) <a href="#fnref:6" class="footnote-back-ref">↩</a></p></li> <li id="fn:7"><p>Spritz, RA (1997). "Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development". Seminars in Cutaneous Medicine and Surgery. 16 (1): 15–23. doi:10.1016/s1085-5629(97)80031-4. PMID 9125761. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:7" class="footnote-back-ref">↩</a></p></li> <li id="fn:8"><p>Harper, Douglas. "Piebald". Online Etymology Dictionary. <a href="http://www.etymonline.com/index.php?term=piebald&allowed_in_frame=0" target="_blank">http://www.etymonline.com/index.php?term=piebald&allowed_in_frame=0</a> <a href="#fnref:8" class="footnote-back-ref">↩</a></p></li> <li id="fn:9"><p>Skeat, Walter W. (1882). The Concise Dictionary of English Etymology. Hertfordshire: Clarendon Press. p. 442. <a href="https://books.google.com/books?id=YAF6AAAAIAAJ&q=piebald" target="_blank">https://books.google.com/books?id=YAF6AAAAIAAJ&q=piebald</a> <a href="#fnref:9" class="footnote-back-ref">↩</a></p></li> </ol>