Definition:
Neurofibromatosis is an autosomal dominant genetic disorder. Neurofibromatosis covers all distinct genetic disorders that cause tumors to develop along different nerves.
Diagnosis:
Clinical findings combined with indicated diagnostic procedure like CT scan, X-ray or MRI is essential to arrive at the proper diagnosis of neurofibromatosis.
Treatment:
Neurofibromatosis has no particular effective treatment. The following management therapy can help improve the condition, but not totally cure the condition of the person suffering from Neurofibromatosis:
* Surgical excision of the tumor
* Radiation therapy or the use of radiation rays to destroy cancer cells and minimize the size of the tumor until complete shrinking is achieved.
* Chemotherapy or treatment with drugs for the purpose of killing cancer cells.
Symptoms and Signs:
Most of the symptoms of Neurofibromatosis arise from tumor complications. Here are some of the identifiable symptoms of this disorder:
* Multiple skin lumps that may range from few to thousands; soft painless skin lumps
* Neurofibromas
* Skin abnormalities
* Freckles in the armpit or groin
* Pigmented birth marks
* Skeletal abnormalities like bow legs or scoliosis
* Lisch nodules (benign tumors affecting the iris)
* Tumor located in the optic nerve (Optic Glioma)
Causes:
Neurofibromatosis is caused by the mutation in the neurofibromin gene. It is an autosomal dominant disorder of chromosome 17.
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