{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T01:57:57Z","timestamp":1788573477463,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,29]],"date-time":"2018-01-29T00:00:00Z","timestamp":1517184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Nevus Outreach, Inc."},{"name":"Asociaci\u00f3n Espa\u00f1ola de afectados por Nevus Gigante Cong\u00e9nito"},{"name":"Association du Naevus G\u00e9ant Cong\u00e9nital"},{"name":"Naevus 2000 France-Europe"},{"name":"Caring Matters Now"},{"name":"RE(ACT) Community"},{"name":"BeHeard Rare Disease Science Challenge"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2018,5]]},"abstract":"Summary<\/jats:title>Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71\u2010year\u2010old patient with a giant congenital melanocytic nevus (CMN) of the lower back, buttocks, and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it. Imaging and biopsy showed a large, non\u2010pulsatile venous malformation intermingled with the deep nevus. A low\u2010abundance, heterozygous BRAF<\/jats:styled-content><\/jats:italic> c.1799T>A (p.V600E) mutation was present in both gluteal and occipital congenital nevi; additional mutations in NRAS<\/jats:styled-content><\/jats:italic>, GNAQ<\/jats:styled-content><\/jats:italic>, GNA<\/jats:styled-content>11<\/jats:italic>, HRAS<\/jats:styled-content>,<\/jats:italic> or PIK<\/jats:styled-content>3CA<\/jats:styled-content><\/jats:italic> were undetectable. This is the first demonstration of a recurrent BRAF<\/jats:styled-content><\/jats:italic> mutation in multiple large congenital nevi from the same individual, confirming that this malformation can have multiple genetic origins. Early constitutive activation of BRAF<\/jats:styled-content> can therefore cause unusual associations of giant nevi with vascular malformations, indicating that both pigment and endothelial cell physiology may be affected by mosaic RAS<\/jats:styled-content>opathies.<\/jats:p>","DOI":"10.1111\/pcmr.12685","type":"journal-article","created":{"date-parts":[[2018,1,10]],"date-time":"2018-01-10T02:58:31Z","timestamp":1515553111000},"page":"437-441","source":"Crossref","is-referenced-by-count":25,"title":["Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF<\/scp><\/i>"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0201-3799","authenticated-orcid":false,"given":"Heather C.","family":"Etchevers","sequence":"first","affiliation":[{"name":"Aix Marseille Univ INSERM MMG Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Rose","sequence":"additional","affiliation":[{"name":"Dermatohistological Laboratory L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Kahle","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helmuth","family":"Vorbringer","sequence":"additional","affiliation":[{"name":"Radiological Group Practice L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Fina","sequence":"additional","affiliation":[{"name":"Department of Pathology H\u00f4pital de la Timone APHM Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Heux","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ INSERM MMG Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Berger","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Pathologie und Neuropathologie Klinikum Kassel Kassel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ INSERM MMG Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0811-418X","authenticated-orcid":false,"given":"St\u00e9phane","family":"Zaffran","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ INSERM MMG Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9882-2162","authenticated-orcid":false,"given":"Nicolas","family":"Macagno","sequence":"additional","affiliation":[{"name":"Department of Pathology H\u00f4pital de la Timone APHM Marseille France"},{"name":"INSERM UMR_S 911 CRO2 Aix Marseille Univ Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven","family":"Krengel","sequence":"additional","affiliation":[{"name":"Dermatological Group Practice L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,29]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12233"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700725"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.203"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.12881"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.5021\/ad.2016.28.1.123"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.70"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2012.05.043"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.11.022"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2016.05.042"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.2350\/14-10-1566-OA.1"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.2350\/14-02-1444-OA.1"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2015.11.027"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2006.04.085"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3181fb5bc7"}],"container-title":["Pigment Cell & Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpcmr.12685","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12685","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T14:40:05Z","timestamp":1695566405000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.12685"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,29]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1111\/pcmr.12685"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.12685","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,29]]}}}