Neurofibromatosis can be divided into two phenotypically and genetically distinct disorders, both having tumor growth as a hallmark. Neurofibromatosis 1 (NF1), once known as peripheral neurofibromatosis or Von Recklinghausen’s disease, is characterized by skin lesions, multiple tumor types, and vascular lesions, while neurofibromatosis 2 (NF2) is characterized by predominantly central nervous system (CNS) tumors, most notably bilateral vestibular schwannomas (1). There are also more rare variants of classic NF1, including segmental (or mosaic) NF1, in which pathological features are restricted to one area of the body, and spinal neurofibromatosis, characterized by the late onset of paraspinal neurofibromas (2). In this chapter, we shall focus on the clinical and pathogenic features of most common form of NF, NF1, with a limited discussion of the clinical features of NF2.
|Title of host publication||Neurogenetics|
|Subtitle of host publication||Scientific and Clinical Advances|
|Number of pages||21|
|State||Published - Jan 1 2005|