Abstract
Encephalocraniocutaneous lipomatosis (ECCL) is a rare genetic condition with well-described skin, ocular, and central nervous system findings. Several case reports have been documented demonstrating the presence of low-grade gliomas in patients with ECCL and the association with certain FGFR1 mutations. We report on a case of diffuse low-grade glioma, mitogen activated protein kinase pathway altered in a patient with ECCL, who was found to have a distinct FGFR1 mutation.
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MeSH terms
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Brain Neoplasms / complications
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Brain Neoplasms / genetics
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Brain Neoplasms / pathology
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Eye Diseases / etiology
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Eye Diseases / pathology
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Female
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Glioma / complications
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Glioma / genetics
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Glioma / pathology
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Humans
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Lipomatosis* / complications
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Lipomatosis* / genetics
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Lipomatosis* / pathology
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Male
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Mutation
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Neurocutaneous Syndromes* / complications
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Neurocutaneous Syndromes* / genetics
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Neurocutaneous Syndromes* / pathology
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Primary Immunodeficiency Diseases / complications
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Primary Immunodeficiency Diseases / genetics
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Primary Immunodeficiency Diseases / pathology
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Receptor, Fibroblast Growth Factor, Type 1 / genetics
Substances
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Receptor, Fibroblast Growth Factor, Type 1
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FGFR1 protein, human
Supplementary concepts
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Encephalocraniocutaneous lipomatosis