Beschreibung:
<jats:p>Schimmelpenning syndrome is a rare, well-defined constellation of clinical phenotypes associated with the presence of nevus sebaceous<b><i></i></b> and multisystem abnormalities most commonly manifested as cerebral, ocular, and skeletal defects [<xref ref-type="bibr" rid="ref1">1</xref>]. A single nucleotide mutation in the <i>HRAS</i> or <i>KRAS</i> genes resulting in genetic mosaicism is responsible for the clinical manifestations of this syndrome in the majority of cases. We report a case of an adolescent boy with Schimmelpenning syndrome with a multifocal pilocytic astrocytoma. No <i>HRAS</i> or <i>KRAS</i> gene mutations were noted in the tumor on genetic sequencing. However, glial tumors have been associated with genetic mutations of RAS upregulation, which may imply a common pathway.</jats:p>