{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T08:27:40Z","timestamp":1774686460280,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,4]],"date-time":"2020-04-04T00:00:00Z","timestamp":1585958400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Sapporo Medical University"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 1 (NF1) is a genodermatosis caused by heterozygous germ line variations in the <jats:italic>NF1<\/jats:italic> gene. A second\u2010hit <jats:italic>NF1<\/jats:italic> aberration results in the formation of caf\u00e9\u2010au\u2010lait macules, cutaneous neurofibroma and plexiform neurofibroma (PNF). Mosaic NF1 (mNF1), caused by a postzygotic <jats:italic>NF1<\/jats:italic> mutation, is characterized by localized or generalized NF1\u2010related manifestations. Although NF1 and mNF1 are associated with pigmentary skin lesions, clinically recognizable melanocytic nevi that developed over PNF have not been reported. Here, we report the first case of multiple melanocytic nevi that developed on a giant caf\u00e9\u2010au\u2010lait macule and PNF. The PNF had biallelic <jats:italic>NF1<\/jats:italic> deletions, a whole deletion of <jats:italic>NF1<\/jats:italic> and a novel intragenic deletion involving exons 25\u201330. The deletions were not detected in the blood, which resulted in the diagnosis of mNF1. Furthermore, the nevus cells had not only biallelic <jats:italic>NF1<\/jats:italic> deletions but also <jats:italic>NRAS<\/jats:italic> Q61R, a common mutation found in congenital melanocytic nevi. These analyses revealed the coexistence of the two different mosaic diseases, mNF1 and congenital melanocytic nevi. For a diagnosis of cases with atypical NF1\u2010like symptoms, genetic analyses using blood and lesional tissues are useful and aid in genetic counseling.<\/jats:p>","DOI":"10.1111\/1346-8138.15327","type":"journal-article","created":{"date-parts":[[2020,4,4]],"date-time":"2020-04-04T07:27:23Z","timestamp":1585985243000},"page":"658-662","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic analyses of mosaic neurofibromatosis type 1 with giant caf\u00e9\u2010au\u2010lait macule, plexiform neurofibroma and multiple melanocytic nevi"],"prefix":"10.1111","volume":"47","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 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