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Diagnostic Importance of Cutaneous Manifestations of Neurofibromatosis—A Systematic Review

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submitted on 2025-10-07, 11:40 and posted on 2025-10-07, 11:41 authored by Hina Aslam, Inshal Jawed, Ali Farhan, Vikash Karmani, Agha Muhammad Wali Mirza, Farah Alam, Hina Khan, Abdul Haseeb, Mohammad Omer Alam, Javed Iqbal, Brijesh Sathian, Abu Huraira Bin Gulzar
<p dir="ltr">A class of hereditary diseases known as neurofibromatoses results in tumor growth on tissue from nerves. The spinal cord, nerves, and brain are among the parts of the nervous framework where these tumors can form. Similar to other genetic disorders, neurofibromatosis discloses complicated phenotypes, exhibiting varying benign and malignant tumors and skin lesions. Apart from the symptoms of this disease, its origin has also been observed to be a challenging task for the physician. Tracking signs and indicated symptoms often leads the investigator to a provisional diagnosis. This review aims to present an enhanced, descriptive, and elaborated guide for practitioners to get along with the new and comprehensive cases of neurofibromatosis with diverse presentations. The purpose of this study is to assess the presenting and diagnostic symptoms of individuals with neurofibromatosis types 1 and 2. Research articles were retrieved through electronic databases (Google Scholar, Pub‐Med, EMBASE, ELSEVIER, SAGE, and Cochrane Central Register of Controlled Trials) from its inception till December 2023. Six hundred fifty‐eight studies have been found, of which 14 were selected based on inclusion criteria. The presence of Café au Lait spots, neurofibromas, and schwannomas are definite and distinguished indications of NF1. Identification of the different types of skin lesions completes the diagnosis, and initial therapy can be started.</p><h2>Other Information</h2><p dir="ltr">Published in: Neurology and Clinical Neuroscience<br>License: <a href="http://creativecommons.org/licenses/by-nc-nd/4.0/" target="_blank">http://creativecommons.org/licenses/by-nc-nd/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1111/ncn3.12878" target="_blank">https://dx.doi.org/10.1111/ncn3.12878</a></p>

Funding

Open Access funding provided by the Qatar National Library.

History

Language

  • English

Publisher

Wiley

Publication Year

  • 2025

License statement

This Item is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Institution affiliated with

  • Hamad Medical Corporation

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