Abstract
The neurofibromatoses are defined by the presence of café-au-lait macules and neurofibromas and are associated with central and peripheral nervous system tumors. Individuals with neurofibromatosis 1 are at risk for optic nerve gliomas, nerve root and plexi neurofibromas and schwannomas, spinal cord tumors, benign and malignant peripheral nerve sheath tumors, and pheochromocytomas. Individuals with neurofibromatosis 2 are at risk for presenile cataracts, vestibular schwannomas, intracranial and intraspinal meningiomas, and intramedullary spinal cord ependymomas.
MeSH terms
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Child
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Child, Preschool
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Cranial Nerve Neoplasms / genetics
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Cranial Nerve Neoplasms / pathology
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Humans
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Infant
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Neurofibroma, Plexiform / genetics
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Neurofibroma, Plexiform / pathology
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Neurofibromatosis 1 / genetics*
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Neurofibromatosis 1 / pathology
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Neurofibromatosis 2 / genetics*
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Neurofibromatosis 2 / pathology
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Optic Nerve Diseases / genetics
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Optic Nerve Diseases / pathology
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Pigmentation Disorders / genetics
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Pigmentation Disorders / pathology
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Skin Neoplasms / genetics
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Skin Neoplasms / pathology
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Soft Tissue Neoplasms / genetics
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Soft Tissue Neoplasms / pathology
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Spinal Cord Neoplasms / genetics
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Spinal Cord Neoplasms / pathology
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Vestibular Nerve / pathology