Acoustic Neurofibromatosis (due to Neurofibromatosis Type 1)

Acoustic Neurofibromatosis (due to Neurofibromatosis Type 1)

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Skin Care
Diseases & Conditions
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Contributed byMaulik P. Purohit MD MPHAug 14, 2020

The topic Acoustic Neurofibromatosis (due to Neurofibromatosis Type 1) you are seeking is a synonym, or alternative name, or is closely related to the medical condition Neurofibromatosis Type 1.

Quick Summary:

  • Neurofibromatosis is a multisystem genetic disorder affecting the nervous system, skin, and skeletal muscles
  • Neurofibromatosis Type 1 (NF1) manifests as benign tumors developing from the layer covering the cutaneous (skin) and optic (eye) nerves .This results in disfiguring outgrowths from the skin. When these lesions become multiple and locally-invasive, it is called plexiform neurofibromatosis
  • Neurofibromatosis Type 1 is caused by mutation in the neurofibromin (NF) gene resulting in the decreased production of a protein called neurofibromin, which acts as a tumor suppressor protein. Though mutations in NF-gene occur during birth, the clinical manifestations take some years to develop
  • The diagnosis of Neurofibromatosis Type 1 is made by a genetic test. In this test, in 95% of the cases, molecular sequencing of NF1 gene is positive
  • Malignant transformation of the neurofibromas (skin outgrowths), spinal cord and brain tumors, and proliferation of the tumor during pregnancy and puberty are some of the complications associated with Neurofibromatosis Type 1
  • The treatment is mainly focused on the early detection of complications and treating them. Presently, there are no effective ways to prevent Neurofibromatosis Type 1

Please find comprehensive information on Neurofibromatosis Type 1 regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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