{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:52:54Z","timestamp":1747187574904,"version":"3.40.5"},"reference-count":7,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T00:00:00Z","timestamp":1558656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Koolen\u2010de Vries syndrome (Kd<jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content>), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. Associated anomalies include many cutaneous findings. Here, we report a 17\u2010year\u2010old boy with Kd<jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content> (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical caf\u00e9\u2010au\u2010lait macules (<jats:styled-content style=\"fixed-case\">CALM<\/jats:styled-content>s) on biopsy. We review the cutaneous findings commonly associated with Kd<jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content> (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical <jats:styled-content style=\"fixed-case\">CALM<\/jats:styled-content>s, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with Kd<jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content> (17q21.31 microdeletion syndrome).<\/jats:p>","DOI":"10.1111\/pde.13849","type":"journal-article","created":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T16:20:27Z","timestamp":1558714827000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Atypical Caf\u00e9\u2010au\u2010Lait Macules in a Patient with Koolen\u2010de Vries Syndrome (17q21.31 Microdeletion Syndrome)"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6702-5163","authenticated-orcid":false,"given":"Allison M.","family":"Han","sequence":"first","affiliation":[{"name":"Division of Pediatric and Adolescent Dermatology Rady Children's Hospital  San Diego California"},{"name":"Departments of Dermatology and Pediatrics San Diego School of Medicine University of California  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2100-7407","authenticated-orcid":false,"given":"Ayan","family":"Kusari","sequence":"additional","affiliation":[{"name":"Division of Pediatric and Adolescent Dermatology Rady Children's Hospital  San Diego California"},{"name":"Departments of Dermatology and Pediatrics San Diego School of Medicine University of California  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fred","family":"Soeprono","sequence":"additional","affiliation":[{"name":"Division of Pediatric and Adolescent Dermatology Rady Children's Hospital  San Diego California"},{"name":"Departments of Dermatology and Pediatrics San Diego School of Medicine University of California  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2760-0474","authenticated-orcid":false,"given":"Lawrence F.","family":"Eichenfield","sequence":"additional","affiliation":[{"name":"Division of Pediatric and Adolescent Dermatology Rady Children's Hospital  San Diego California"},{"name":"Departments of Dermatology and Pediatrics San Diego School of Medicine University of California  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,24]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.178"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-006-0644-6"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2010.07.002"},{"issue":"10","key":"e_1_2_2_5_1","first-page":"1028","article-title":"Abrupt onset of dyschromatosis universalis hereditaria with macromelanosomes","volume":"13","author":"Shi Y","year":"2015","journal-title":"J Dtsch Dermatol Ges"},{"issue":"7","key":"e_1_2_2_6_1","first-page":"478","article-title":"Neurofibromatosis in the South African Indian community\u2014further evidence for heterogeneity?","volume":"72","author":"Wallis CE","year":"1987","journal-title":"S Afr Med 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