A Compact Guide to the Diagnosis and Management of Neurofibromatosis Type 1

Authors

Timothy Beer, Jefferson Medical College, 3rd yearFollow
David Strayer, MD, PhD, Thomas Jefferson UniversityFollow

Document Type

Presentation

Publication Date

4-29-2011

Comments

Presented at the 13th Annual Pathology Honors Research Symposium. Thomas Jefferson University, Philadelphia Pennsylvania.

Abstract

Brief Introduction

Neurofibromatosis type 1 (NF-1) is a multisystem neurocutaneous disorder resulting from mutations in the NF-1 gene on chromosome 17 (q11.2). Mutations in NF-1 result in deficient activity of the tumor suppresor protein neurofibromin, allowing for uncontrolled constitutive activity of the proliferative Raspathway in several neural cell types, including neurons, oligodendrocytes, astrocytes and Schawnn cells. Half of NF-1 cases are inherited in autosomal dominant fashion, while half develop sporadically. The syndrome has 100% penetrance but highly variable expressivity. The prevalence of this syndrome is 1/3,000, making it common enough to warrant YOU, the physician, taking a moment to learn how to recognize and manage it.

Recommended Citation

Beer, Timothy and Strayer, MD, PhD, David, "A Compact Guide to the Diagnosis and Management of Neurofibromatosis Type 1" (2011). Department of Pathology, Anatomy, and Cell Biology Resident's Posters. Paper 1.
https://jdc.jefferson.edu/pacbresidentposters/1