The Diagnosis and Management of Neurofibromatosis Type 1

K Ina Ly; Jaishri O Blakeley

doi:10.1016/j.mcna.2019.07.004

The Diagnosis and Management of Neurofibromatosis Type 1

Med Clin North Am. 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004.

Authors

K Ina Ly¹, Jaishri O Blakeley²

Affiliations

¹ Stephen E. and Catherine Pappas Center for Neuro-Oncology, Massachusetts General Hospital, Yawkey 9 East, 55 Fruit Street, Boston, MA 02114, USA. Electronic address: ily@partners.org.
² Department of Neurology and Neurosurgery, Johns Hopkins University, 600 North Wolfe Street, Meyer 100, Baltimore, MD 21287, USA; Department of Oncology, Johns Hopkins University, 600 North Wolfe Street, Meyer 100, Baltimore, MD 21287, USA.

PMID: 31582003
DOI: 10.1016/j.mcna.2019.07.004

Abstract

Neurofibromatosis type 1 (NF1), NF2, and schwannomatosis are related, but distinct, tumor suppressor syndromes characterized by a predilection for tumors in the central and peripheral nervous systems. NF1 is one of the most common autosomal dominant conditions of the nervous system. NF1 has a high degree of variability in clinical presentation, which may include multiple neoplasms as well as cutaneous, vascular, bony, and cognitive features. Some of these manifestations overlap with other genetic conditions. Accurate diagnosis of NF1 is important for individualizing clinical care and genetic counseling. This article summarizes the clinical features, diagnostic work-up, and management of NF1.

Keywords: Cutaneous neurofibroma; Nervous system; Neurofibromatosis type 1; Plexiform neurofibroma; RASopathy; Tumor predisposition syndrome.

Publication types

Review

MeSH terms

Diagnosis, Differential
Disease Management
Genetic Testing / methods*
Humans
Neurilemmoma / diagnosis*
Neurofibromatoses / diagnosis*
Neurofibromatosis 1* / diagnosis
Neurofibromatosis 1* / therapy
Skin Neoplasms / diagnosis*

Supplementary concepts

Schwannomatosis