{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T21:01:03Z","timestamp":1760043663104,"version":"3.40.5"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,1,2]],"date-time":"2020-01-02T00:00:00Z","timestamp":1577923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001582","name":"Dermatology Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001582","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["#K12CA138464","#R01AR062165"],"award-info":[{"award-number":["#K12CA138464","#R01AR062165"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Abnormal hair growth is a defining feature of <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content>opathies, syndromes caused by germline mutations in the <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content> pathway. However, detailed hair manifestations and the mechanisms of altered hair growth in <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content>opathies are poorly delineated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To identify distinguishing clinical features and investigate how the <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content> pathway influences hair growth by performing a systematic and detailed side\u2010by\u2010side comparison of hair manifestations in cardio\u2010facio\u2010cutaneous syndrome (<jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content>) and Costello syndrome (<jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>), two <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content>opathies caused by mutations in the downstream and upstream elements of the <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content> pathway, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Sixteen individuals with <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content> and 23 individuals with <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content> were enrolled. Mutation data were recorded. Scalp hair, eyebrows and eyelashes of individuals with <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content> or <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content> were examined for texture, colour, density and morphology. Scalp hairs were examined by light microscopy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>While both syndromes displayed abnormal hair, striking differences were observed, including darker and thicker scalp hair and sparse eyebrows and eyelashes in <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content>. By contrast, synophrys, trichomegaly and abnormalities of the scalp hair shafts were observed in <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>. Possible correlation with straight hair and genotype was observed in <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The results emphasize the role of the <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content> pathway in hair growth, improve accuracy of clinical diagnosis of <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content> and provide a foundation for identification of therapeutic targets.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.16082","type":"journal-article","created":{"date-parts":[[2019,11,18]],"date-time":"2019-11-18T06:25:11Z","timestamp":1574058311000},"page":"601-607","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Comparison of hair manifestations in cardio\u2010facio\u2010cutaneous and Costello syndromes highlights the influence of the <scp>RAS<\/scp> pathway on hair growth"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6197-8123","authenticated-orcid":false,"given":"J.","family":"Urban","sequence":"first","affiliation":[{"name":"Department of Dermatology University of California, Davis Sacramento CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9108-5390","authenticated-orcid":false,"given":"L.","family":"Qi","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences University of California, Davis Davis CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0179-1484","authenticated-orcid":false,"given":"H.","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Food Science Zhejiang University Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9136-5184","authenticated-orcid":false,"given":"I.","family":"Rybak","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of California, Davis Sacramento CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1719-7228","authenticated-orcid":false,"given":"K.A.","family":"Rauen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California, Davis Sacramento CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7010-5516","authenticated-orcid":false,"given":"M.","family":"Kiuru","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of California, Davis Sacramento CA USA"},{"name":"Department of Pathology and Laboratory Medicine University of California, Davis Sacramento CA 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