{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:30:22Z","timestamp":1761744622540,"version":"3.37.3"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,10,25]],"date-time":"2017-10-25T00:00:00Z","timestamp":1508889600000},"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":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acanthosis nigricans (<jats:styled-content style=\"fixed-case\">AN<\/jats:styled-content>) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and malignancy. Occasionally, this unique skin manifestation is seen in alliance with several skeletal disorders, such Crouzon syndrome, achondroplasia and hypochondroplasia (<jats:styled-content style=\"fixed-case\">HCH<\/jats:styled-content>). These orthopedic disorders are known to have genetic changes in <jats:italic><jats:styled-content style=\"fixed-case\">FGFR<\/jats:styled-content>3<\/jats:italic>. Recently, <jats:styled-content style=\"fixed-case\">AN<\/jats:styled-content> was reported in <jats:styled-content style=\"fixed-case\">HCH<\/jats:styled-content> with p.K650T mutation in <jats:italic><jats:styled-content style=\"fixed-case\">FGFR<\/jats:styled-content>3<\/jats:italic>, and to date, there are only three reports, comprising 18 cases, describing <jats:styled-content style=\"fixed-case\">AN<\/jats:styled-content> harboring this specific gene mutation. Herein, we detail three new cases of <jats:styled-content style=\"fixed-case\">AN<\/jats:styled-content> with p.K650T <jats:italic><jats:styled-content style=\"fixed-case\">FGFR<\/jats:styled-content>3<\/jats:italic> mutation, and review the 21 known cases.<\/jats:p>","DOI":"10.1111\/1346-8138.14107","type":"journal-article","created":{"date-parts":[[2017,10,25]],"date-time":"2017-10-25T10:22:39Z","timestamp":1508926959000},"page":"207-210","source":"Crossref","is-referenced-by-count":17,"title":["Familial acanthosis nigricans with p.K650T <i><scp>FGFR<\/scp>3<\/i> mutation"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4547-2277","authenticated-orcid":false,"given":"Kensuke","family":"Fukuchi","sequence":"first","affiliation":[{"name":"Department of Dermatology Hamamatsu University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuki","family":"Tatsuno","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hamamatsu University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayo","family":"Matsushita","sequence":"additional","affiliation":[{"name":"Division of Dermatology Hamamatsu Medical Center Hamamatsu"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0902-3586","authenticated-orcid":false,"given":"Akiharu","family":"Kubo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9274-7050","authenticated-orcid":false,"given":"Taisuke","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hamamatsu University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiki","family":"Tokura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hamamatsu University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,25]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"530","volume-title":"Lever's Histopathology of the Skin","author":"John CM","year":"2015"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1295-462"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<427::AID-AJMG18>3.0.CO;2-J"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302275"},{"key":"e_1_2_5_6_1","first-page":"375","article-title":"Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3","volume":"15","author":"Van Esch H","year":"2004","journal-title":"Genet Couns"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31966"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.143.9.1153"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-08-0393"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13061"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13580"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/316892"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990702)85:1<53::AID-AJMG10>3.0.CO;2-F"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi127"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI28163"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08963.x"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.14107","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.14107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T13:59:29Z","timestamp":1695563969000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.14107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,25]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/1346-8138.14107"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.14107","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"type":"print","value":"0385-2407"},{"type":"electronic","value":"1346-8138"}],"subject":[],"published":{"date-parts":[[2017,10,25]]}}}