Neurofibromatosis - literature review

Introduction: Neurofibromatosis is an autosomal dominant genetic disease that affects the nervous system and the skin. There are two main types: type 1 neurofibromatosis type 1 (NF1) and type 2 neurofibromatosis (NF2). NF1 is autosomal dominant and is the most common type, presenting neurofibromas, “cafe-au-lait” spots, freckles, and optic gliomas. It can also be called segmental NF1 when it presents characteristics limited to a body area constituting a somatic mosaicism of a pathogenic variant in the neurofibromin gene. NF2 is characterized by bilateral vestibular schwannomas, which lead to hearing loss, and meningiomas. It is caused by variations in tumor suppressor genes such as moesin-ezrin-radixin, which produces merlin, a tumor suppressor. Treatment for types 1 and 2 neurofibromatosis consists of clinical monitoring and medical intervention when necessary. Objectives: Address all aspects and updates of Neurofibromatosis, emphasizing risk factors, diagnostic methods, management and indicated treatment. In this way, the present study can contribute to assisting the informative and educational reading of professionals and students in the health area on the proposed theme. Methods: Bibliographic review study, where search sites were used in databases, such as PUBMED; SCIELO; UPTODATE; LILACS. The articles were selected and analyzed qualitatively about the proposed subject. Results: From reading and analyzing the content of selected articles, it was possible to extract data about epidemiology; genetic factors; pathophysiology; clinical condition; diagnosis; treatment; associated comorbidities and differential diagnoses. With the elaboration of this study, it was possible to identify that the theme lacks current productions and research, the most relevant being produced in the last century. Conclusion: Due to the complexity of the disease and the production of content on the subject, it is extremely important to encourage more debates. Therefore, with the evolution of knowledge on the subject, the understanding of the correlation between genotype and phenotype in Neurofibromatosis will consolidate, bringing benefits to patients and their families. The evolution of knowledge about the disease will contribute to an improved diagnosis and effective treatments of the disease.