J Pediatr Genet 2016; 05(02): 098-104
DOI: 10.1055/s-0036-1579766
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis

Jesse Lee Kresak
1   Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, Florida, United States
,
Meggen Walsh
1   Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, Florida, United States
› Author Affiliations
Further Information

Publication History

10 July 2015

10 August 2015

Publication Date:
09 March 2016 (online)

Abstract

The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), followed by neurofibromatosis 2 (3%), and a more recently recognized, lesser known form, schwannomatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations are discussed in this review article.