{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:07:11Z","timestamp":1792084031479,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,7,14]],"date-time":"2020-07-14T00:00:00Z","timestamp":1594684800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome","doi-asserted-by":"publisher","award":["WT104076MA"],"award-info":[{"award-number":["WT104076MA"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Keratinocytic epidermal nevi (KEN) are characterized clinically by permanent hyperkeratosis in the distribution of Blaschko's lines and histologically by hyperplasia of epidermal keratinocytes. KEN with underlying RAS mutations have been associated with hypophosphatemic rickets and dysplastic bone lesions described as congenital cutaneous skeletal hypophosphatemia syndrome. Here, we describe two patients with keratinocytic epidermal nevi, in one associated with a papular nevus spilus, who presented with distinct localized congenital fibro\u2010osseous lesions in the lower leg, diagnosed on both radiology and histology as osteofibrous dysplasia, in the absence of hypophosphatemia or rickets, or significantly raised FGF23 levels but with distinct mosaic <jats:italic>HRAS<\/jats:italic> mutations. This expands the spectrum of cutaneous\/skeletal mosaic RASopathies and alerts clinicians to the importance of evaluating for bony disease even in the absence of bone profile abnormalities.<\/jats:p>","DOI":"10.1111\/pde.14254","type":"journal-article","created":{"date-parts":[[2020,7,14]],"date-time":"2020-07-14T08:49:10Z","timestamp":1594716550000},"page":"890-895","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Keratinocytic epidermal nevi associated with localized fibro\u2010osseous lesions without hypophosphatemia"],"prefix":"10.1111","volume":"37","author":[{"given":"Lien","family":"Mestach","sequence":"first","affiliation":[{"name":"Department of Dermatology University Hospitals of Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7195-5670","authenticated-orcid":false,"given":"Satyamaanasa","family":"Polubothu","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine UCL GOS Institute of Child Health London UK"},{"name":"Paediatric Dermatology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alistair","family":"Calder","sequence":"additional","affiliation":[{"name":"Paediatric Radiology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Denayer","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospital Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Gholam","sequence":"additional","affiliation":[{"name":"Paediatric Dermatology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Legius","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospital Leuven Leuven Belgium"},{"name":"Department of Human Genetics KU Leuven \u2010 University of Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Levtchenko","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology University Hospitals of Leuven Leuven Belgium"},{"name":"Department of Development and Regeneration KU Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"An","family":"Van Laethem","sequence":"additional","affiliation":[{"name":"Department of Dermatology 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