{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T10:01:09Z","timestamp":1781863269548,"version":"3.54.5"},"reference-count":28,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,3,15]],"date-time":"2023-03-15T00:00:00Z","timestamp":1678838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"JSPS KAKENHI","doi-asserted-by":"publisher","award":["JP22H03046"],"award-info":[{"award-number":["JP22H03046"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"JSPS KAKENHI","doi-asserted-by":"publisher","award":["FSRG-2020-0014"],"award-info":[{"award-number":["FSRG-2020-0014"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Japanese Government (Monbukagakusho: MEXT) Scholarship and by the Ministry Education and Science of Russian Federation","award":["JP22H03046"],"award-info":[{"award-number":["JP22H03046"]}]},{"name":"Japanese Government (Monbukagakusho: MEXT) Scholarship and by the Ministry Education and Science of Russian Federation","award":["FSRG-2020-0014"],"award-info":[{"award-number":["FSRG-2020-0014"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We report a case of an eight-year-old boy with mucopolysaccharidosis (MPS) II with atypical skin lesions of hyperpigmented streaks along Blaschko\u2019s lines. This case presented with mild symptoms of MPS such as hepatosplenomegaly, joint stiffness, and quite mild bone deformity, which was the reason for the delay in diagnosis until the age of seven years. However, he showed an intellectual disability that did not meet the diagnostic criteria for an attenuated form of MPS II. Iduronate 2-sulfatase activity was reduced. Clinical exome sequencing of DNA from peripheral blood revealed a novel pathogenic missense variant (NM_000202.8(IDS_v001):c.703C&gt;A, p.(Pro235Thr)) in the IDS gene, which was confirmed in the mother with a heterozygous state. His brownish skin lesions differed from the Mongolian blue spots or \u201cpebbling\u201d of the skin that are observed in MPS II.<\/jats:p>","DOI":"10.3390\/ijms24065647","type":"journal-article","created":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T03:50:45Z","timestamp":1678938645000},"page":"5647","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko\u2019s Lines"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9029-1694","authenticated-orcid":false,"given":"Viktoriia","family":"Sofronova","sequence":"first","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan"},{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizaveta","family":"Gurinova","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Petukhova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3446-1211","authenticated-orcid":false,"given":"Hiroko","family":"Fukamatsu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7154-7033","authenticated-orcid":false,"given":"Takenobu","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3701-5575","authenticated-orcid":false,"given":"Yumi","family":"Aoyama","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Golikova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"},{"name":"Medical Genetics Center, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavril","family":"Moskvitin","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"},{"name":"Medical Genetics Center, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roza","family":"Ivanova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"},{"name":"Medical Genetics Center, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6040-4117","authenticated-orcid":false,"given":"Mira","family":"Savvina","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0315-852X","authenticated-orcid":false,"given":"Filipp","family":"Vasilev","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahito","family":"Moriwaki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6019-1628","authenticated-orcid":false,"given":"Seigo","family":"Terawaki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aitalina","family":"Sukhomyasova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"},{"name":"Medical Genetics Center, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8258-7452","authenticated-orcid":false,"given":"Nadezhda","family":"Maksimova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8490-7299","authenticated-orcid":false,"given":"Takanobu","family":"Otomo","sequence":"additional","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,15]]},"reference":[{"key":"ref_1","unstructured":"Neufeld, N.F., and Muenzer, J. 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