Neurocutaneous Syndromes

Chapter

Abstract

The neurofibromatoses (NFs) encompass several disorders that have as common features both cutaneous pigmented lesions and tumors of neuroectodermal origin. Among this group, NF I and NF II are most common. NF I (also known as peripheral NF or von Recklinghausen's disease) accounts for up to 96% of all NF cases [51]. It constitutes one of the most common inherited neurologic disorders, affecting both sexes and all racial groups equally, with an annual incidence ranging from 1/2,500 to 1/4,000 live births [43]. Its pattern of inheritance is autosomal dominant, with high penetrance and variable expression. Despite this, only half the cases present with a discernible family history — the other half result from new gene mutations. The NF1 tumor suppressor gene has been identified and is located on chromosome 17q11.2. It encodes a large, ubiquitous cytoplasmic protein — neurofibromin — which functions in part to decrease cell proliferation by promoting the inactivation of the p21-ras proto-oncogene [114].

Keywords

Tuberous Sclerosis Complex Malignant Peripheral Nerve Sheath Tumor Vestibular Schwannoma Vestibular Schwannomas Cortical Tuber 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  1. 1.Division of NeurosurgeryUniversity of TorontoTorontoCanada
  2. 2.Division of NeurosurgeryThe University of Toronto, The Hospital for Sick ChildrenTorontoCanada

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