Neurofibromatosis type 1: a literature review

Deimilė Marija Gritėnaitė1, Eimilė Pundytė2, Dalia Stelmokaitė2

1Tbilisi State Medical University, International Faculty of Medicine and Stomatology, Tbilisi, Georgia

2Lithuanian University of Health Sciences, Faculty of Medicine, Kaunas, Lithuania

Abstract

Background. Neurofibromatosis type 1 (NF1) is a multisystem genetic disease predisposing to the formation of benign and malignant tumours, affecting mainly the skin and nervous systems, leading to higher mortality.

Aim. To analyze the latest scientific literature on the clinical manifestations, diagnosis and treatment of neurofibromatosis type 1.

Methods. Research of scientific literature was conducted through databases PubMed and Google Scholar, including keywords and their combinations in English: “neurofibromatosis type 1”, “NF1”, “cutaneous manifestations”, “diagnosis”, “treatment”, “management”, “selumetinib”.

Results. Neurofibromatosis type 1 (NF1) is generally recognized by lesions visible on the skin – neurofibromas, Cafe‘ – au – lait spots, freckles.Revised diagnostic criteria may facilitate the diagnostic process of NF1 at a younger age and enable differentiation from other syndromes. Etiological treatment for NF1 remains unavailable, and when indicated, lesions are managed through removal by laser therapy or surgical intervention. Selumetinib has been approved for the treatment of inoperable plexiform neurofibromas in children with NF1. Ongoing studies aim to evaluate neurocognitive benefits and long – term safety of MEK inhibitors.

Conclusions.  NF1 can disrupt multiple bodily systems, contributing to increased mortality rates and adversely impacting patients’ quality of life. Thus, early recognition of NF1 is imperative. After the diagnosis, continuous care by a multidisciplinary team and timely treatment according to indications are important. While NF1 presents significant challenges, ongoing clinical trials investigating novel drug therapies offer promising avenues for improved management and treatment outcomes.

Keywords: neurofibromatosis type 1, neurofibroma, Cafe‘ – au – lait spot, diagnostic criteria, management, laser therapy, selumetinib

Full article

https://doi.org/10.53453/ms.2024.5.14