The neurofibromatoses (NF) are genetic disorders of the nervous system. At this time two
distinct forms are known: NF1 and NF2. One baby in every four thousand is born in the
United States with NF1. It is one of the most common genetic disorders, affecting some
one hundred thousand americans. NF2 is less common and occurs in only one and every
forty thousand births. In both forms of NF severity of symptoms vary greatly.
The effects can be severely disabling, mildly disfiguring or can even go undetected.
Several other names for this disorder have been used in the past but recent advancements
in understanding the disorder made some of those terms obsolete.
NF1 was previously known as peripheral neurofibromatosis, or von Recklinghouasen's
disease after the doctor who first described it in 1882. NF2 was called bilateral acoustic
nuerofibromatosis, central neurofibromatosis, or vestibular schwannoma.
NF is found in every racial and ethnic group throughout the world and
affects both sexes equally. Both neurofibromatosis1 and neurofibromitosis2 are caused
by abnormal genes. This disease cannot be "caught" from someone who has it already. .
A common early sign of NF1 is six or more tan spots on the skin. They are
called "cafe-au-lait" (French for "coffee with milk") spots. These spots are
often present at birth, and may increase in size and number with age. They
also may become darker. More than half of affected children have some signs
Benign tumors (lumps), under the skin or deeper, may appear at any age but
especially during adolescence. The tumors, which grow on nerves, are made
up of cells that surround nerves and other cell types, and are called
neurofibromas. An affected person may have any number of neurofibromas,
from none to hundreds. The tumors, which vary in size, may or may not be ... Continue Reading