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Neurofibromatosis and Schwannomatosis: Diagnosis and Management

This special issue belongs to the section “Clinical Diagnosis and Prognosis“.

Special Issue Information

Dear Colleagues, 

Neurofibromatosis (NF) and Schwannomatosis (SWN) are complex genetic disorders that present a range of complications that significantly impact patients' lives. Both conditions can lead to the development of multiple benign tumors along nerves, causing pain, neurological deficits, deformities, and an increased risk of malignant transformation. Additionally, neurofibromatosis type 1 (NF1)- and NF2-related Schwannomatosis are associated with an increased risk of developing intracranial and spinal tumors. Despite advances in research, the diagnosis and management of these conditions remain challenging. Common shortcomings include variability in clinical presentation, overlapping symptoms, limited treatment options, and a lack of comprehensive management guidelines. These shortcomings make it crucial to have comprehensive and multidisciplinary approaches to effectively diagnose and manage patients with these conditions and underscore the necessity for ongoing research and innovation in the field. We therefore invite you to contribute original research articles, case studies, and reviews that offer new insights, innovative diagnostic techniques, and novel management strategies to this Special Issue. We particularly encourage submissions focusing on preclinical studies and the development of cutting-edge methodologies, including omics approaches, that have the potential to improve our understanding of the pathophysiology and treatment of these conditions.

Dr. Walter Taal
Dr. Enrico Martin
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neurofibromatosis type 1 (NF1)
  • neurofibromatosis type 2 (NF2)
  • schwannomatosis (SWN)
  • neurofibromas
  • schwannomas
  • malignant peripheral nerve sheath tumor (MPNST)
  • glioma
  • tumor management
  • genetic counseling
  • quality of life (QoL)

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Diagnostics - ISSN 2075-4418