{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:51:33Z","timestamp":1747187493039,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T00:00:00Z","timestamp":1690156800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K23NS11966"],"award-info":[{"award-number":["K23NS11966"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder caused by somatic <jats:italic>FGFR1<\/jats:italic> and <jats:italic>KRAS<\/jats:italic> variants. It shares significant phenotypic overlap with several closely related disorders caused by mutations in the RAS\u2010MAPK pathway (mosaic RASopathies). We report a diagnostically challenging case of ECCL in which next\u2010generation sequencing of affected tissue identified a pathologic <jats:italic>FGFR1<\/jats:italic> p.K656E variant, thereby establishing a molecular diagnosis. Patients with <jats:italic>FGFR1<\/jats:italic>\u2010associated ECCL carry a risk of developing malignant brain tumors; thus, genetic testing of patients with suspected ECCL has important management implications.<\/jats:p>","DOI":"10.1111\/pde.15353","type":"journal-article","created":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T12:13:00Z","timestamp":1690200780000},"page":"76-79","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis"],"prefix":"10.1111","volume":"41","author":[{"given":"Kelly K.","family":"Barry","sequence":"first","affiliation":[{"name":"Tufts University School of Medicine  Boston Massachusetts USA"},{"name":"Department of Dermatology Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn G.","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel M.","family":"Balkin","sequence":"additional","affiliation":[{"name":"Department of Plastic &amp; Oral Surgery Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siddharth","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4835-5770","authenticated-orcid":false,"given":"Alanna J.","family":"Church","sequence":"additional","affiliation":[{"name":"Department of Pathology Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Whitney","family":"Eng","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology Boston Children's Hospital and Dana\u2010Farber Cancer Institute, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,7,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2016-0527-OA"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12775"},{"volume-title":"GeneReviews(\u00ae)","year":"1993","author":"Moog U","key":"e_1_2_6_4_1"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.006"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.10.004"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15353","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T14:12:51Z","timestamp":1706537571000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,24]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1111\/pde.15353"],"URL":"https:\/\/doi.org\/10.1111\/pde.15353","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2023,7,24]]},"assertion":[{"value":"2022-12-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}