{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,15]],"date-time":"2026-03-15T15:27:54Z","timestamp":1773588474084,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T00:00:00Z","timestamp":1726185600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T00:00:00Z","timestamp":1726185600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is an autosomal dominant disorder characterized by widespread skin hyperpigmentation, caf\u00e9\u2010au\u2010lait spots, and hypopigmented circular macules, resulting from\n                    <jats:italic>KITLG<\/jats:italic>\n                    variants. KITLG, expressed by keratinocytes, binds to KIT on melanocytes, stimulating melanogenesis. Disturbances in the KITLG\u2010KIT interaction result in diffuse hyperpigmentation in FPHH. However, the mechanisms behind hypopigmented macule formation remain unclear. This report presents a unique FPHH case in a patient with a novel\n                    <jats:italic>KITLG<\/jats:italic>\n                    mutation (Ser78Leu). Notably, the patient showed multiple hypopigmented macules and striae along the lines of Blaschko. Digital polymerase chain reaction analysis of the DNA from skin and blood tissues indicated a copy\u2010neutral loss of heterozygosity at the\n                    <jats:italic>KITLG<\/jats:italic>\n                    locus, only in the hypopigmented macule. These findings suggest that the hypopigmented macules might result from revertant mosaicism. Conversely, caf\u00e9\u2010au\u2010lait spots do not follow the lines of Blaschko and can superimpose on the hypopigmented striae, indicating a distinct pathogenesis. This case contributes to the understanding of the genetic mechanisms in FPHH.\n                  <\/jats:p>","DOI":"10.1111\/1346-8138.17459","type":"journal-article","created":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T10:59:24Z","timestamp":1726225164000},"page":"159-162","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A case of familial progressive hyperpigmentation with or without hypopigmentation presenting with hypopigmented striae along the lines of Blaschko"],"prefix":"10.1111","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3662-0095","authenticated-orcid":false,"given":"Tokimasa","family":"Hida","sequence":"first","affiliation":[{"name":"Department of Dermatology Sapporo Medical University School of Medicine  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8507-1726","authenticated-orcid":false,"given":"Masashi","family":"Idogawa","sequence":"additional","affiliation":[{"name":"Department of Medical Genome Sciences, Cancer Research Institute Sapporo Medical University School of Medicine  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aki","family":"Ishikawa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sapporo Medical University School of Medicine  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masae","family":"Okura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Sapporo Medical University School of Medicine  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Center for Vascular Anomalies, Department of Plastic and Reconstructive Surgery Tonan Hospital  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9428-9543","authenticated-orcid":false,"given":"Takashi","family":"Tokino","sequence":"additional","affiliation":[{"name":"Department of Medical Genome Sciences, Cancer Research Institute Sapporo Medical University School of Medicine  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5391-3397","authenticated-orcid":false,"given":"Hisashi","family":"Uhara","sequence":"additional","affiliation":[{"name":"Department of Dermatology Sapporo Medical University School of Medicine  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.29"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.019"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.187.10.1565"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1841"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14694"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2009.00921.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384047.2019.1702406"},{"key":"e_1_2_8_9_1","unstructured":"Multiple sequence alignment by CLUSTALW. Available from:https:\/\/www.genome.jp\/tools\u2010bin\/clustalwAccessed 01 May 2024."},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.05.055"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcc.20084"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.16016"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2016.11.018"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2019.05.020"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.1999.1076"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.01.035"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.17459","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.17459","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.17459","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,15]],"date-time":"2026-03-15T13:44:54Z","timestamp":1773582294000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.17459"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,13]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1111\/1346-8138.17459"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.17459","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,13]]},"assertion":[{"value":"2024-05-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}