Neurofibromatosis

Neurofibromatosis is a disorder that hereditary. It is passed down through the genes of the parents and is a condition that causes tumors to form on nerve tissue. This can cause skin and bone abnormalities that affect a person’s nerves, spinal cord, brain, skin and various systems throughout the body.

Neurofibromatosis

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Neurofibromatosis can be pinpointed in childhood, sometimes as early as infancy with children that have advanced cases. Some children have severe effects from the condition but some have very few issues whatsoever.

While there is no cure for Neurofibromatosi, tumors that form can be removed from the body and the complications that arise from these tumors can be treated. About half of the children who have Neurofibromatosi may have learning problems.

Neurofibromatosis can be diagnosed based on a number of different factors and findings. Some of the symptoms can be Lisch nodules on the irises of the eyes, skeletal abnormalities, cafe-au-lait spots on the skin in certain sizes, locations and numbers, family members with NF1 and freckles in the groin area or under the arms. However, for a definitive diagnosis, the child must have at least two of the symptoms.

Complications from neurofibromatosis can vary but is not limited to scoliosis, high blood pressure, early or delayed puberty, speech problems and impairment, seizures and optic nerve tumors.

Mild cases of neurofibromatosis will not necessarily lead to more severe symptoms in the future and these children, when diagnosed early, can lead normal, healthy lives typically. In fact, about 60% of people diagnosed with the disorder only have mild symptoms of the disease and lead healthy lives.

There are two types of neurofibromatosis; NF1 and NF2. The NF1 disorder is the most common and is known as von Recklinghausen disease. NF2 is much more rare than NF1 and tends to cause hearing loss and balance problems in those affected.

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