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Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. [1] The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. [1] Although symptoms are often mild, each condition presents differently. Neurofibromatosis type I (NF1) is typically characterized ...
Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...
Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves. The types of tumors frequently associated with NF2 include vestibular ...
Dural ectasia can be asymptomatic, in which case no intervention is necessary. However, it is associated with chronic pain in patients with Marfan syndrome, suggesting it is a structural risk factor. [20] There is no medical consensus on how to manage symptomatic (painful) dural ectasia.
Optic nerve glioma (or optic glioma), a form of glioma which affects the optic nerve, is often one of the central nervous system manifestations of neurofibromatosis 1. [1][2] Optic gliomas are usually pilocytic tumors, and can involve the optic nerve or optic chiasm. [3] Optic gliomas are usually associated with neurofibromatosis type 1 in 30% ...
Neurofibroma. A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor[ 1 ] or sporadic neurofibroma[ 1 ]), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant ...
About 50% of people with NF2 have a de novo mutation, and about 50% of these new mutations will be mild mosaic cases which are less likely to be passed on. NF2 patients may develop other cranial and spine tumors. NF2 develops during the teens or early adulthood, whereas sporadic VSs are diagnosed mostly in patients between the ages of 40–60 ...
Medical genetics. Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras / MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin ...