{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T01:58:54Z","timestamp":1777514334391,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2025,5,3]],"date-time":"2025-05-03T00:00:00Z","timestamp":1746230400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Fonds Lise Bachand"},{"DOI":"10.13039\/100007475","name":"Canadian Dermatology Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007475","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Med Surg"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Patterned cutaneous hypopigmentation (PCH) can be associated with an array of extracutaneous findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>Determine clinical and genetic characteristics of patients with PCH with extracutaneous involvement.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method:<\/jats:title>\n                    <jats:p>Thirty patients were identified, and eight patients with neurological involvement agreed to participate in this study. They were reassessed to collect clinical anomalies associated with their PCH. Exome sequencing was performed on patient blood and lesional skin biopsies as well as blood from both parents when available. Array comparative genomic hybridization was performed on patients\u2019 skin and blood samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Narrow and broad bands along the lines of Blaschko were observed in 8 and 5 patients, respectively. Musculoskeletal, acral; ophthalmologic; and dental anomalies were observed in 7 patients. A chromosomal or monogenic cause of syndromic PCH was identified in all patients: 3 mosaic chromosomal abnormalities found (trisomy 7, trisomy 14, and 13q13-ter deletion) and pathological\n                      <jats:italic>de novo<\/jats:italic>\n                      germline and somatic mutations in 3 (\n                      <jats:italic>NBEA<\/jats:italic>\n                      ,\n                      <jats:italic>USP9X<\/jats:italic>\n                      , and\n                      <jats:italic>DDX3X<\/jats:italic>\n                      ) and 2 patients (\n                      <jats:italic>NIPBL<\/jats:italic>\n                      and\n                      <jats:italic>RHOA<\/jats:italic>\n                      ) respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Limitations:<\/jats:title>\n                    <jats:p>Single-centre and retrospective study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Through better clinical characterization of syndromic PCH, we will improve our understanding of these disorders. We believe that all patients with PCH with systemic findings should undergo comprehensive genomic evaluations of lesional skin and peripheral blood.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/12034754251336241","type":"journal-article","created":{"date-parts":[[2025,5,3]],"date-time":"2025-05-03T05:35:19Z","timestamp":1746250519000},"page":"485-490","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study"],"prefix":"10.1177","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5611-2293","authenticated-orcid":false,"given":"Zhuo Ran","family":"Cai","sequence":"first","affiliation":[{"name":"Division of Dermatology, Montreal University Hospital Center, Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Fran\u00e7ois","family":"Soucy","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, QC, Canada"},{"name":"Department of Pediatrics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Tihy","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, QC, Canada"},{"name":"Department of Pediatrics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, QC, Canada"},{"name":"Department of Pediatrics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Marcoux","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, QC, Canada"},{"name":"Division of Pediatric Dermatology, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,5,3]]},"reference":[{"key":"e_1_3_3_2_2","first-page":"55","article-title":"Studies on melanin; Incontinentia pigmenti achromians. 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