{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:14:50Z","timestamp":1787026490205,"version":"build-2736575974"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T00:00:00Z","timestamp":1741219200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Dyschromatosis, a group of pigmentary dermatoses, accompany both hyper- and hypo-pigmentation, including dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), and familial progressive hyper- and hypo-pigmentation (FPHH). A peculiar phenotype of dyschromatosis presented as multiple lentigines and hypopigmentation with various sizes and shapes was found to be associated with\n                    <jats:italic>SASH1<\/jats:italic>\n                    mutations and has recently been reported frequently. The current study evaluated the clinical manifestation, pathological pattern, and genetic basis of dyschromatosis in a five-generation family. This research also presents a case study of a sporadic patient with dyschromatosis caused by\n                    <jats:italic>SASH1<\/jats:italic>\n                    mutations and shows different clinicopathological characteristics form DSH, DUH and FPHH. SASH1 (SAM and SH3 Domain Containing 1) gene, located on chromosome 6q24.3, encodes a tumor suppressor protein involved in cell signaling, migration, and adhesion. Additionally, the\n                    <jats:italic>SASH1<\/jats:italic>\n                    mutations could also lead to another pigmentary phenotype: multiple lentigines. High consistency in clinicopathological features and genetic basis in these two\n                    <jats:italic>SASH1<\/jats:italic>\n                    -related pigmentary disorders suggests that\n                    <jats:italic>SASH1<\/jats:italic>\n                    mutations cause multiple lentigines and dyschromatosis which might belong to a disease spectrum. Overall, it is expected the current study results could help enhance a more comprehensive understanding of\n                    <jats:italic>SASH1<\/jats:italic>\n                    -related pigmentary dermatoses.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2025.1414129","type":"journal-article","created":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T01:52:45Z","timestamp":1741225965000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis"],"prefix":"10.3389","volume":"16","author":[{"given":"Tingmei","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunhua","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,3,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1234","DOI":"10.1038\/jid.2011.29","article-title":"KITLG mutations cause familial progressive hyper- and hypopigmentation","volume":"131","author":"Amyere","year":"2011","journal-title":"J. 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