{"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":1792084027829,"version":"4.4.0"},"reference-count":40,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T00:00:00Z","timestamp":1728864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Riga Stradins University Department of Neurology and Neurosurgery"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Schimmelpenning syndrome, or epidermal nevus syndrome, is a rare, neurocutaneous disorder characterized by skin abnormalities, such as epidermal nevi, and involvement of the central nervous system, including intracranial tumors. There are only a few reported cases of intracranial tumors associated with Schimmelpenning syndrome. In most cases, a single nucleotide mutation in the RAS family proto-oncogenes, like HRAS or KRAS genes, can result in the genetic mosaicism that is responsible for the clinical manifestations of this syndrome. The authors present a case report of a woman with Schimmelpenning syndrome who sought medical help with complaints of progressive headache and dizziness. The radiological and histopathological findings indicated an astrocytoma, IDH-mutant (WHO grade 3). The molecular analysis revealed pathogenic changes in the oncogenic HRAS gene with a prevalence of 31%. The patient underwent surgical treatment and had no neurological sequelae. By presenting such a clinical case, attention is paid to the interrelationship between genetic syndromes and intracranial tumors.<\/jats:p>","DOI":"10.3390\/medicina60101688","type":"journal-article","created":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T12:44:31Z","timestamp":1728909871000},"page":"1688","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Association of Schimmelpenning Syndrome with Astrocytoma (WHO Grade 3): Case Report"],"prefix":"10.3390","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1184-9435","authenticated-orcid":false,"given":"Aija","family":"Tumova","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery, Riga Stradins University, 1007 Riga, Latvia"},{"name":"Department of Neurosurgery, Riga East Clinical University Hospital, 1038 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaspars","family":"Auslands","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Riga Stradins University, 1007 Riga, Latvia"},{"name":"Department of Neurosurgery, Riga East Clinical University Hospital, 1038 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrejs","family":"Millers","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Riga Stradins University, 1007 Riga, Latvia"},{"name":"Department of Neurosurgery, Pauls Stradins Clinical University Hospital, 1002 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zanda","family":"Priede","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Riga Stradins University, 1007 Riga, Latvia"},{"name":"Department of Neurosurgery, Pauls Stradins Clinical University Hospital, 1002 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u0101ris","family":"Buks","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Riga East Clinical University Hospital, 1038 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnese","family":"Ozola","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Riga East Clinical University Hospital, 1038 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u012bna","family":"Ozoli\u0146a","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Riga Stradins University, 1007 Riga, Latvia"},{"name":"Department of Neurosurgery, Riga East Clinical University Hospital, 1038 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u0101rlis","family":"Bic\u0101ns","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Riga East Clinical University Hospital, 1038 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u016bdolfs","family":"Ulmanis","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Riga Stradins University, 1007 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jaad.2010.01.017","article-title":"The group of epidermal nevus syndromes Part I. 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