Association of Schimmelpenning Syndrome with Astrocytoma (WHO Grade 3) : Case Report
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2024-10-14
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Abstract
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.
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Publisher Copyright: © 2024 by the authors.
Keywords
Humans, Female, Astrocytoma/complications, Adult, Brain Neoplasms/genetics, Proto-Oncogene Proteins p21(ras)/genetics, Nevus/complications, Mutation, 3.2 Clinical medicine, 1.1. Scientific article indexed in Web of Science and/or Scopus database
Citation
Tumova, A, Auslands, K, Millers, A, Priede, Z, Buks, M, Ozola, A, Ozoliņa, E, Bicāns, K & Ulmanis, R 2024, 'Association of Schimmelpenning Syndrome with Astrocytoma (WHO Grade 3) : Case Report', Medicina (Kaunas, Lithuania), vol. 60, no. 10, 1688. https://doi.org/10.3390/medicina60101688