Neurofibromatosis.
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.
Roos
K L
KL
Department of Neurology, Indiana University School of Medicine, Indianapolis, USA.
Muckway
M
M
D002648:Child; D002675:Child, Preschool; D003390:Cranial Nerve Neoplasms / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D018318:Neurofibroma, Plexiform / Q000235:genetics / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000235:genetics* / Q000473:pathology; D009901:Optic Nerve Diseases / Q000235:genetics / Q000473:pathology; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology; D012983:Soft Tissue Neoplasms / Q000235:genetics / Q000473:pathology; D013120:Spinal Cord Neoplasms / Q000235:genetics / Q000473:pathology; D014725:Vestibular Nerve / Q000473:pathology