{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:07:06Z","timestamp":1792084026759,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T00:00:00Z","timestamp":1683849600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Schimmelpenning\u2010Feuerstein\u2010Mims syndrome (SFMS), an epidermal nevus disease, features skin lesions including craniofacial nevus sebaceous and extracutaneous anomalies (e.g. brain, eye, and bone). Recent genetic studies implicate <jats:italic>HRAS<\/jats:italic>, <jats:italic>KRAS<\/jats:italic>, and <jats:italic>NRAS<\/jats:italic> genes in somatic mutations. Our case, a 48\u2010year\u2010old man, presented with nevus sebaceous on the scalp; pigmented skin lesions on the right side of his neck, back, and chest along the Blaschko lines; a history of epilepsy; and mild intellectual disability. Accordingly, SFMS was suspected. DNA analysis of nevus sebaceous skin and peripheral blood leukocytes showed a pathogenic <jats:italic>HRAS<\/jats:italic> variant NM_005343.4:c.34G\u2009&gt;\u2009A p.(Gly12Ser) in biopsy specimens from different skin layers but not blood, indicating somatic mosaic mutation. Until now, the <jats:italic>HRAS<\/jats:italic> p.(Gly12Ser) mutation has been reported in somatic RASopathies but not SFMS. The authors report this mutation in a case of SFMS, review another 15 cases of SFMS, and discuss <jats:italic>HRAS<\/jats:italic> c.34G\u2009&gt;\u2009A p.(Gly12Ser) somatic mutations. <jats:italic>RAS<\/jats:italic> mutations of somatic RASopathies share activating hotspot mutations found in cancers, and produce different phenotypes depending on the developmental stage at which the somatic mutations occur.<\/jats:p>","DOI":"10.1111\/1346-8138.16822","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T07:19:18Z","timestamp":1683875958000},"page":"1213-1215","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["<scp>Schimmelpenning\u2010Feuerstein\u2010Mims<\/scp> syndrome induced by <i>HRAS<\/i>\u00a0<scp>Gly12Ser<\/scp> somatic mosaic mutation: Case report and literature 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