{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:07:07Z","timestamp":1792084027821,"version":"4.4.0"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,10]],"date-time":"2023-03-10T00:00:00Z","timestamp":1678406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100021201","name":"European Academy of Dermatology and Venereology","doi-asserted-by":"publisher","award":["PPRC\u20102018\u201050"],"award-info":[{"award-number":["PPRC\u20102018\u201050"]}],"id":[{"id":"10.13039\/501100021201","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["G035620N"],"award-info":[{"award-number":["G035620N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Epidermal nevus syndrome (ENS) comprises a heterogeneous group of neurocutaneous syndromes associated with the presence of epidermal nevi and variable extracutaneous manifestations. Postzygotic activating\n                    <jats:italic>HRAS<\/jats:italic>\n                    pathogenic variants were previously identified in nevus sebaceous (NS), keratinocytic epidermal nevus (KEN), and different ENS, including Schimmelpenning\u2013Feuerstein\u2013Mims and cutaneous\u2010skeletal\u2010hypophosphatasia syndrome (CSHS). Skeletal involvement in\n                    <jats:italic>HRAS<\/jats:italic>\n                    \u2010related ENS ranges from localized bone dysplasia in association with KEN to fractures and limb deformities in CSHS. We describe the first association of\n                    <jats:italic>HRAS<\/jats:italic>\n                    \u2010related ENS and auricular atresia, thereby expanding the disease spectrum with first branchial arch defects if affected by the mosaic variant. In addition, this report illustrates the first concurrent presence of verrucous EN, NS, and nevus comedonicus (NC), indicating the possibility of mosaic\n                    <jats:italic>HRAS<\/jats:italic>\n                    variation as an underlying cause of NC. Overall, this report extends the pleiotropy of conditions associated with mosaic pathogenic variants in\n                    <jats:italic>HRAS<\/jats:italic>\n                    affecting ectodermal and mesodermal progenitor cells.\n                  <\/jats:p>","DOI":"10.1111\/cge.14323","type":"journal-article","created":{"date-parts":[[2023,3,10]],"date-time":"2023-03-10T05:01:50Z","timestamp":1678424510000},"page":"709-713","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<i>HRAS<\/i>\n                    \u2010related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects"],"prefix":"10.1111","volume":"103","author":[{"given":"Aude","family":"Beyens","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital  Ghent Belgium"},{"name":"Department of Biomolecular Medicine Ghent University Hospital  Ghent Belgium"},{"name":"Department of Dermatology Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Lietaer","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology AZ Sint Jan Brugge\u2010Oostende  Bruges Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Claes","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital  Ghent Belgium"},{"name":"Department of Biomolecular Medicine Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elfride","family":"De Baere","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent Ghent University Hospital  Ghent Belgium"},{"name":"Department of Biomolecular Medicine Ghent University Hospital  Ghent 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