Sunday, February 10, 2013

Symptoms for Neurofibromatosis Type 1!


Symptoms for neurofibromatosis type 1 include:
  • Presence of light brown sports (café-au-lait) on the skin.
  • Appearance of two or more neurofibromas (pea-sized bumps) that can grow either on the nerve tissue, under the skin or on many nerve tissues.
  • Manifestation of freckles under the armpits or in the groin areas.
  • Appearance of tiny tan clumps of pigment in the iris of the eyes (Lisch nodules).
  • Tumors along the optic nerve of the eye (optic glioma).
  • Severe curvature of the spine (scoliosis).
  • Enlargement or malformation of other bones in the skeletal system.
  • A first-degree relative with NF1
Nearly 50 percent of children with NF1 have speech problems, learning disabilities, seizures and hyperactivity. Neurofibromas can grow inside the body and may affect organ systems. Hormonal changes at puberty and/or even pregnancy may increase the size of neurofibromas. Symptoms for NF1 vary for each individual. Those that are skin-related are often present at birth, during infancy and by a child's tenth birthday. From ages 10 to 15, neurofibromas may become apparent. Symptoms such as café-au-lait spots, freckling and Lisch nodules pose minimal or no health risk to a person. Though neurofibromas are generally a cosmetic concern for those with NF1, they can sometimes be psychologically distressing.
Neurofibromatosis is diagnosed from a combination of findings. For children to be diagnosed with NF1, they must show at least two of the aforementioned symptoms associated with NF1. A physical examination by a doctor familiar with the disorder is usually performed. Doctors may use special lamps to examine the skin for café-au-lait spots. Doctors may also rely on magnetic resonance imaging (MRI), X-rays, computerized tomography (CT scan) and blood tests to detect defects in the NF1 gene.


Other symptoms may include:
  • Blindness
  • Convulsions
  • Freckles in the underarm or groin
  • Large, soft tumors called plexiform neurofibromas, which may have a dark color and may spread under the surface of the skin
  • Pain (from affected peripheral nerves)
  • Small, rubbery tumors of the skin called nodular neurofibromas
As you can see it can affect many many parts of the body and not one person will have all of the signs that you see. It is different for each person. So what one person that has NF has wrong does not mean that another person with NF will have the same stuff. That is what makes it so hard to find in people. 

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