{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T04:30:53Z","timestamp":1776918653027,"version":"3.51.2"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,3,21]],"date-time":"2012-03-21T00:00:00Z","timestamp":1332288000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Piebaldism is an autosomal dominant disorder characterized by congenital hypopigmented patches of skin and hair and has been found to be associated with mutations in the<jats:italic>KIT<\/jats:italic>or<jats:italic>SLUG<\/jats:italic>genes. Caf\u00e9\u2010au\u2010lait macules (CALM) may occasionally be seen in piebaldism. There are four reports describing six patients who were said to have both piebaldism and neurofibromatosis type 1 (NF1) due to the presence of multiple CALM and intertriginous freckling, but none of these patients had undergone comprehensive<jats:italic>NF1<\/jats:italic>mutation analysis. We describe a large family with piebaldism in which two members meet diagnostic criteria for NF1 based on the presence of &gt;5 CALM and intertriginous freckling. Interestingly, only these two family members are of mixed race, which could be of importance. A novel complex mutation in the<jats:italic>KIT<\/jats:italic>gene was identified in several family members affected with piebaldism; the proband meeting diagnostic criteria for NF1 also underwent comprehensive<jats:italic>NF1<\/jats:italic>and<jats:italic>SPRED1<\/jats:italic>testing with no mutations detected. These findings suggest that piebaldism may occasionally include CALM and intertriginous freckling, which may create diagnostic confusion especially in the absence of a family history of piebaldism. However, careful clinical evaluation and molecular testing if necessary should distinguish these two disorders. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35297","type":"journal-article","created":{"date-parts":[[2012,3,23]],"date-time":"2012-03-23T00:51:17Z","timestamp":1332463877000},"page":"1195-1199","source":"Crossref","is-referenced-by-count":25,"title":["Caf\u00e9\u2010au\u2010lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome"],"prefix":"10.1002","volume":"158A","author":[{"given":"Cathy A.","family":"Stevens","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei\u2010Wen","family":"Chiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludwine M.","family":"Messiaen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,3,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2001.1862005.x"},{"key":"e_1_2_6_3_1","first-page":"307","article-title":"Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient","volume":"21","author":"Basaran SY","year":"2010","journal-title":"Genet Counsel"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2113"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/335088a0"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1993.tb00366.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.5070\/D38PG2D4SZ","article-title":"Piebaldism and neurofibromatosis type 1: Family report","volume":"16","author":"Duarte AF","year":"2010","journal-title":"Dermatol Online J"},{"key":"e_1_2_6_8_1","first-page":"545","article-title":"Piebaldismo asocido a cancer","volume":"13","author":"Gatto M","year":"1985","journal-title":"Med Cutan Ibero Lat Am"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90020-7"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.19.8696"},{"key":"e_1_2_6_11_1","first-page":"399","article-title":"Molecular alterations of KIT oncogene in gliomas","volume":"29","author":"Gomes AL","year":"2007","journal-title":"Cell Oncol"},{"key":"e_1_2_6_12_1","volume-title":"Advances in neurofibromatosis research","author":"Messiaen L","year":"2011"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(91)70148-U"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"e_1_2_6_16_1","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1182\/blood.V100.4.1274.h81602001274_1274_1286","article-title":"The zine\u2010finger transcription factor SLUG contributes to the function of the SCF\/c\u2010kit signaling pathway","volume":"100","author":"P\u00e9rez\u2010Losada J","year":"2002","journal-title":"Blood"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20345"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33894"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202X.2004.22235.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000018046"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32837"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ne.16.030193.001151"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35297","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35297","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,21]],"date-time":"2024-04-21T21:52:20Z","timestamp":1713736340000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35297"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3,21]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1002\/ajmg.a.35297"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35297","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3,21]]}}}