Year: 2024
Type: article
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour suppressor syndrome associated with benign and malignant tumours, predominantly affecting the skin and nervous system. NF1, the most prevalent neurocutaneous syndrome, and the focus of this review, has a frequency of ~ 1/1,900-1/3,500 people worldwide. Disease manifestations can present at birth and emerge with age, negatively impacting multiple clinical domains and imparting a profound impact on a patient’s quality of life and life expectancy. Given its progressive nature and marked clinical variability, NF1 warrants a multidisciplinary approach to management and treatment.
Source: Canadian dermatology today.
Author: Andrew Ferrier
Institution: University of Alberta
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4403061461