neurofibromatosis
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GC: n

S: http://rad.usuhs.edu/rad/handouts/jsmirnio/AFIP%20Focus%20Neurofibromatosis%20RSNA%202007%20FINAL.pdf (last access: 30 July 2015); DORLAND; http://medical-dictionary.thefreedictionary.com/neurofibromatosis (last access: 30 July 2015).

N: 1. neurofibromatosis, either of two hereditary disorders characterized by distinctive skin lesions and by benign, progressively enlarging tumours of the nervous system.
2. Neurofibromatosis type 1, also known as von Recklinghausen’s disease, is much the more common of the two disorders and is present in about one of every 3,000 live births. This type is characterized by the presence of café-au-lait (pale brown) spots on the skin and the formation of numerous benign soft tumours arising from the abnormal growth of nerves.
3. Neurofibromatosis 2: An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life. Year introduced: 1992.

S: 1 & 2. EncBrit – http://global.britannica.com/science/neurofibromatosis (last access: 30 July 2015). 3. NCBI – http://www.ncbi.nlm.nih.gov/mesh/68016518 (last access: 7 December 2013).

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CR: Proteus syndrome