Pathology - Neurofibromatosis
Autosomal dominant disorder resulting from a mutation in the neurofibromatosis type 1 (NF1) gene, a tumor suppressor gene situated on chromosome 17. Pathology Neurofibroma is a type of tumor made up of spindle cells that can be found in the dermis, peripheral nerves, or major nerve trunks. Cutaneous neurofibromas appear as skin nodules and may lead to darkening of the skin above them. Clinical Neurofibromas can result in neurological symptoms depending on their position on various nerves, for example, gliomas on the optic nerve might cause vision abnormalities. Patients may have Lisch nodules (pigmented nodules of the iris) or Cafe-au-lait spots (pigmented macules on the skin) upon examination. Bending and tilting of long bones such as the tibia or radial bone, or the development of scoliosis, can lead to symptoms resembling arthritis. Hypertension is a prevalent condition. Therapy Surgery is performed to remove neurofibromas if they are causing disfigurement or neurological problems. Hypertension is treated if necessary. Neurofibromatosis type 2 is an autosomal dominant disorder caused by a mutation in the NF2 gene on chromosome 22. It is less common than neurofibromatosis type 1 and is characterized by bilateral auditory schwannomas, numerous meningiomas, and other neoplasms.
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