Neurofibromatosis 1 (NF1):
also known as von Recklinghausen NF or Peripheral NF.
Occurring in 1:3,000 births
NF1 is typically characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. These fibromas could be small in number or thousands may be present.
Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur.
Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord.
About 50% of people with NF also have learning disabilities.
NF1 is caused by a mutation on the 17th chromosome. This defect reduces the body's ability to produce neurofibromin.
Neurofibromin is one of a number of chemicals in the body that helps to suppress cell growth.
A deficiency of neurofibromin, or complete lack of, allows the cells of the body to grow uncontrolled.
Signs and Symptoms of NF1:
To be diagnosed with NF, one must have 2 or more of the following:
6 or more cafe au lait (CAL) of specific size
lisch nodules
axillary freckling
inguinal freckling
dermal fibromas
optic glioma
plexiform tumor
skeletal abnormalities
1st degree relative with NF1
NF can cause :
headaches
learning disabilities
cancer
severe pain
itching
bone deformities
tibial displasia
scoliosis
spina bifida
tumors
blindness
deafness
disfigurement
macrocephaly (large head)
optic glioma
high blood pressure
hypertension
rare complications:
early/late puberty
growth problems (too short/tall)
mental retardation
seizures
stroke
cerebral vascular occlusion
hormonal problems
