{"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":1792084031490,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T00:00:00Z","timestamp":1623196800000},"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":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>As one of the epidermal nevus syndromes, Schimmelpenning\u2013Feuerstein\u2013Mims (SFM) is characterized by craniofacial nevus sebaceous (NS) and extracutaneous abnormalities (e.g., brain, eyes, and bone). Here, we report a case of a 4\u2010year\u2010old boy who presented with significant skin abnormalities (NS in the scalp, extensive epidermal nevus along Blaschko\u2019s lines), ocular abnormalities (strabismus), central nervous system abnormalities (seizure and mental retardation), lymphatic dysplasia (chylous pleural and pericardial effusion), cardiac abnormalities (patent foramen ovale), urogenital system abnormalities (cryptorchidism, hypospadias), and a tumor predisposition (embryonal rhabdomyosarcoma). DNA samples from NS, rhabdomyosarcoma, and peripheral blood leukocytes were analyzed by next\u2010generation sequencing. A novel mutation in the <jats:italic>HRAS<\/jats:italic> gene (c.38G&gt;T; p.Gly13Val) was detected in a mosaic state in NS, rhabdomyosarcoma, and peripheral blood leukocytes, with different ratio of heterozygous mutation (<jats:italic>HRAS<\/jats:italic> c.38G&gt;T) of 39.90% (9412\/23\u00a0588 reads), 73.03% (205\u00a0562\/281\u00a0468 reads), and 14.16% (15\u00a0837\/111\u00a0842 reads), respectively. By predicting the impact of the mutation on the biological function of protein, we found that the novel <jats:italic>HRAS<\/jats:italic> mutation (c.38G&gt;T; p.Gly13Val) had the highest damaging scores among other <jats:italic>HRAS<\/jats:italic> mutations reported so far. This is the first reported SFM syndrome patient with novel mosaic <jats:italic>HRAS<\/jats:italic> mutation, which may help to expand the mutational spectrum of <jats:italic>HRAS<\/jats:italic> and better understand the role of <jats:italic>HRAS<\/jats:italic> in the disease.<\/jats:p>","DOI":"10.1111\/1346-8138.15922","type":"journal-article","created":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T21:22:11Z","timestamp":1623360131000},"page":"1273-1276","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Expanding mutational spectrum of <i>HRAS<\/i> by a patient with Schimmelpenning\u2013Feuerstein\u2013Mims syndrome"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0393-6352","authenticated-orcid":false,"given":"Qi","family":"Luo","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology\u2010Oncology Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology\u2010Oncology Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinwen","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenbin","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Pathology Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology\u2010Oncology Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2010.01.017"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12209"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt429"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0303-6987.2006.00374.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.377"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2012.12.017"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000004887"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1597\/06-025.1"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.19633"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1158\/1535-7163.MCT-19-0660"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2316"},{"key":"e_1_2_6_13_1","first-page":"665","article-title":"Cutaneous 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