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  • Print publication year: 2004
  • Online publication date: July 2009

4 - Neurofibromatosis type 1



Neurofibromatosis 1 (NF1) is one of the most common genetic conditions involving the nervous system, affecting 1 in 3000 individuals worldwide without regard for ethnic or racial background (Huson et al., 1989; Riccardi, 1992; Friedman, 1999). It is also one of the most protean of the neurocutaneous syndromes, with diverse manifestations involving the central nervous system as well as other organs. NF1 is a distinct disorder and is not related to neurofibromatosis 2 (NF2) (Evans et al., 1992). There has been much progress in NF1 clinical and basic science research over the past two decades, culminating in the identification of the NF1 gene in 1990 (Cawthon et al., 1990; Viskochil et al., 1990; Wallace et al., 1990). This seminal discovery has opened the door for an improved understanding of the genetic basis of this disorder with the potential for the development of targeted therapies for NF1.


Descriptions of NF1 abound in literature and art dating back to the third century BC. Many early writers in medicine described aspects of what likely represented some of the cutaneous manifestations of NF1, namely the neurofibromas (Zanca, 1980). In 1849, R. W. Smith described patients with multiple idiopathic ‘neuromas’, however, the classical manifestations of NF1 were defined by Frederick von Recklinghausen in 1882 (von Recklinghausen, 1882). In his seminal monograph, he characterized the soft tumors as originating from the perineural tissue, thus leading to their description as ‘neurofibromas’, although he did not identify the syndrome as having a genetic basis.

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