{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T17:27:32Z","timestamp":1782926852859,"version":"3.54.5"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,7,16]],"date-time":"2014-07-16T00:00:00Z","timestamp":1405468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 1 (<jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1) is an autosomal dominant disorder caused by mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1<\/jats:italic> tumor\u2010suppressor gene, and may sometimes manifest in a mosaic form. \u201cSegmental <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1\u201d is generally assumed to be the result of somatic mosaicism for a <jats:italic><jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1<\/jats:italic> mutation, and patients with mosaic <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 have typical features of <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 limited to specific body segments. The clinical features of 58 patients (42 females and 16 males; aged 1\u201369\u00a0years; mean age, 23.4\u00a0years) with mosaic <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 seen at the <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>ikei <jats:styled-content style=\"fixed-case\">U<\/jats:styled-content>niversity <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>ospital during 2004\u20132007 and at the <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>ikei <jats:styled-content style=\"fixed-case\">U<\/jats:styled-content>niversity <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>aisan <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>ospital during 2007\u20132011, were retrospectively studied. Somatic or gonosomal mosaicism was not investigated. Patients were classified into four groups: (i) pigmentary changes (caf\u00e9\u2010au\u2010lait spots and freckling) only (<jats:italic>n<\/jats:italic>\u00a0=\u00a032); (ii) neurofibromas only (<jats:italic>n<\/jats:italic>\u00a0=\u00a05); (iii) neurofibromas and pigmentary changes (<jats:italic>n<\/jats:italic>\u00a0=\u00a013); and (iv) solitary plexiform neurofibromas (<jats:italic>n<\/jats:italic>\u00a0=\u00a08). The area of involvement was variable. The majority of patients were asymptomatic, except patients with plexiform neurofibromas who presented most commonly with pain or tenderness. Lisch nodules were rarely seen. Only four of our 58 patients (6.9%) had specific <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 complications, including language delay (<jats:italic>n<\/jats:italic>\u00a0=\u00a01) and bone deformity (<jats:italic>n<\/jats:italic>\u00a0=\u00a03). Two patients were ascertained through their children with generalized <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1. Patients with mosaic <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 are at low risk of developing disease\u2010associated complications, except patients with plexiform neurofibromas. However, they need to be aware of the small risk of having a child with generalized <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1.<\/jats:p>","DOI":"10.1111\/1346-8138.12567","type":"journal-article","created":{"date-parts":[[2014,7,16]],"date-time":"2014-07-16T06:16:31Z","timestamp":1405491391000},"page":"724-728","source":"Crossref","is-referenced-by-count":30,"title":["Clinical features of 58 <scp>J<\/scp>apanese patients with mosaic neurofibromatosis 1"],"prefix":"10.1111","volume":"41","author":[{"given":"Katsumi","family":"Tanito","sequence":"first","affiliation":[{"name":"Department of Dermatology The Jikei University School of Medicine Tokyo Japan"},{"name":"Department of Dermatology The Jikei University Daisan Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arihito","family":"Ota","sequence":"additional","affiliation":[{"name":"Department of Dermatology The Jikei University School of Medicine Tokyo Japan"},{"name":"Department of Dermatology The Jikei University Daisan Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryoichi","family":"Kamide","sequence":"additional","affiliation":[{"name":"Department of Dermatology The Jikei University Daisan Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidemi","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology The Jikei University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michihito","family":"Niimura","sequence":"additional","affiliation":[{"name":"Department of Dermatology The Jikei University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,16]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"Neurofibromatosis: Phenotype, Natural History, and Pathogenesis","author":"Friedman 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