Tags

Type your tag names separated by a space and hit enter

The Diagnosis and Management of Neurofibromatosis Type 1.
Med Clin North Am 2019; 103(6):1035-1054MC

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.

Authors+Show Affiliations

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.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.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31582003

Citation

Ly, K Ina, and Jaishri O. Blakeley. "The Diagnosis and Management of Neurofibromatosis Type 1." The Medical Clinics of North America, vol. 103, no. 6, 2019, pp. 1035-1054.
Ly KI, Blakeley JO. The Diagnosis and Management of Neurofibromatosis Type 1. Med Clin North Am. 2019;103(6):1035-1054.
Ly, K. I., & Blakeley, J. O. (2019). The Diagnosis and Management of Neurofibromatosis Type 1. The Medical Clinics of North America, 103(6), pp. 1035-1054. doi:10.1016/j.mcna.2019.07.004.
Ly KI, Blakeley JO. The Diagnosis and Management of Neurofibromatosis Type 1. Med Clin North Am. 2019;103(6):1035-1054. PubMed PMID: 31582003.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Diagnosis and Management of Neurofibromatosis Type 1. AU - Ly,K Ina, AU - Blakeley,Jaishri O, PY - 2019/10/5/entrez PY - 2019/10/5/pubmed PY - 2019/10/9/medline KW - Cutaneous neurofibroma KW - Nervous system KW - Neurofibromatosis type 1 KW - Plexiform neurofibroma KW - RASopathy KW - Tumor predisposition syndrome SP - 1035 EP - 1054 JF - The Medical clinics of North America JO - Med. Clin. North Am. VL - 103 IS - 6 N2 - 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. SN - 1557-9859 UR - https://www.unboundmedicine.com/medline/citation/31582003/The_Diagnosis_and_Management_of_Neurofibromatosis_Type_1 L2 - https://linkinghub.elsevier.com/retrieve/pii/S0025-7125(19)30074-4 DB - PRIME DP - Unbound Medicine ER -