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.

Original languageEnglish
Title of host publicationNeurogenetics
Subtitle of host publicationScientific and Clinical Advances
PublisherCRC Press
Number of pages21
ISBN (Electronic)9780849358364
ISBN (Print)9780824729424
StatePublished - Jan 1 2005


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