{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T20:07:30Z","timestamp":1792699650049,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,10,2]],"date-time":"2021-10-02T00:00:00Z","timestamp":1633132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81673049"],"award-info":[{"award-number":["81673049"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81703104"],"award-info":[{"award-number":["81703104"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germline mutations in <jats:italic>HRAS<\/jats:italic> cause Costello syndrome (CS), while mosaic mutations in <jats:italic>HRAS<\/jats:italic> show a variability of phenotypes, ranging from mild features such as keratinocytic epidermal nevus (KEN), sebaceous nevus (SN), woolly hair nevus (WHN) with KEN, to severe manifestations of CS with cutis laxa. We report two individuals. The first was a 2\u2010year\u2010old boy with woolly hair nevus (WHN) without any other cutaneous involvement, in whom somatic <jats:italic>HRAS<\/jats:italic> mutation (c.34G&gt;A; p.Gly12Ser) was identified in his affected scalp and hair follicle specimens. This is the first reported WHN type 1 (no cutaneous involvement) patient caused by somatic <jats:italic>HRAS<\/jats:italic> mutation. The other individual was a 12\u2010year\u2010old girl with CS caused by germline <jats:italic>HRAS<\/jats:italic> mutation (c.34G&gt;A), that manifested with coarse face, palmoplantar keratoderma, deep palmar and plantar creases, hyperpigmented patches, asymmetry and deformity of lower limbs, atopic dermatitis, as well as mental retardation. Of note, a linear hyperpigmented plaque was observed in her father\u2019s lumbosacral region. Although the father refused to provide semen and skin tissue for further examination, this reminds us of possible mosaicism in parents of individuals with germline de novo <jats:italic>HRAS<\/jats:italic> mutation and underlines the importance of parental evaluation for prenatal counseling.<\/jats:p>","DOI":"10.1111\/1346-8138.16177","type":"journal-article","created":{"date-parts":[[2021,10,4]],"date-time":"2021-10-04T12:04:52Z","timestamp":1633349092000},"page":"161-164","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in <i>HRAS<\/i>: Consider parental mosaicism in prenatal counseling"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6311-510X","authenticated-orcid":false,"given":"Jianying","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifeng","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyong","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liangcai","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Dermatology The Sixth Affiliated Hospital Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhirong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.23108"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1109381"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.430"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2316"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33687"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.35.183.512"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.5070\/D3261047188"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13783"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806-4841.20175289"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2009.01046.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13801"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32639"}],"container-title":["The 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