Type 1 neurofibromatosis

Neurofibromatosis is one of a series of disorders described as neurocutaneous syndromes (phakomatoses). Neurofibromatosis is an autosomal dominant genetic disorder that affects the development and growth of ectodermal tissues. There are two distinctive forms of NF, Type 1 (NF-1) and Type 2 (NF-2). NF-1 is characterized by multiple hyper pigmented areas and peripheral neurofibromas. NF-2 is characterized by the development of acoustic (8th cranial nerve) neuromas and other intracranial and/or intraspinal tumors. NF is associated with variable medical and neuro¬ logic conditions, and different individuals with the same diagnosis experience variable symptoms and severity of symptoms. Although some affected individuals have mini¬ mal involvement that has no substantial impact on their lives, others encounter disfigurement secondary to multiple neurofibromas, life-threatening tumors. Neurofibromatosis occurs in about 1 in 3,000 to 1 in 400 individuals. NF affects both sexes and occurs in all races and ethnic groups. The NF-1 gene has been localized to Chromosome 17. NF-2 has been linked to Chromosome 22. About half the cases of neurofibromatosis represent spontaneous mutations.


 


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