NEURO

FIBRAMATOSIS
By Anagha Vinayan
Contents
01 Definition

02 Causes

03 types and symptoms

04 Treatment
Definition
Neurofibromatosis is not a
single medical disorder. It
refers to three different
conditions involving the
development of tumors that
may affect the brain, spinal
cord, and the nerves that
send signals between the
brain and spinal cord and all
other parts of the body.
 NFT 1
usually diagnosed during childhood.
Signs are often noticeable at birth or
shortly afterward and almost always
by age 10. Signs and symptoms are
often mild to moderate, but can vary in
severity.
 Symptoms
1. Flat, light brown spots on the skin (cafe au lait spots). These harmless spots are common in many people. Having more than six cafe au lait spots
suggests NF1. They are usually present at birth or appear during the first years of life. After childhood, new spots stop appearing.
2. Freckling in the armpits or groin area. Freckling usually appears by ages 3 to 5. Freckles are smaller than cafe au lait spots and tend to occur in
clusters in skin folds.
3. Tiny bumps on the iris of the eye (Lisch nodules). These harmless nodules can't easily be seen and don't affect vision.
4. Soft, pea-sized bumps on or under the skin (neurofibromas). These benign tumors usually develop in or under the skin, but can also grow inside
the body. Sometimes, a growth will involve many nerves (plexiform neurofibroma). Plexiform neurofibromas, when located on the face, can
cause disfigurement. Neurofibromas may increase in number with age.
5. Bone deformities. Abnormal bone development and a deficiency in bone mineral density can cause bone deformities such as a curved spine
(scoliosis) or a bowed lower leg.
6. Tumor on the optic nerve (optic glioma). These tumors usually appear by age 3, rarely in late childhood and adolescence, and almost never in
adults.
7. Learning disabilities. Impaired thinking skills are common in children who have NF1 but are usually mild. Often there is a specific learning
disability, such as a problem with reading or mathematics. Attention-deficit/hyperactivity disorder (ADHD) and speech delay also are common.
8. Larger than average head size. Children with NF1 tend to have a larger than average head size due to increased brain volume.
9. Short stature. Children who have NF1 often are below average in height.
10.
NFT 2
Neurofibromatosis 2 (NF2) is much less
common than NF1. Signs and symptoms of
NF2 usually result from the development of
benign, slow-growing tumors in both ears
(acoustic neuromas), which can cause
hearing loss. Also known as vestibular
schwannomas, these tumors grow on the
nerve that carries sound and balance
information from the inner ear to the brain.
 NFT 2
Signs and symptoms appear during the late teen and early adult years,
and can vary in severity. Signs and symptoms can include:

Gradual hearing loss

Ringing in the ears
Poor balance
Headaches

NF2 can lead to the growth of schwannomas in other nerves, including

the cranial, spinal, visual (optic) and peripheral nerves
Schwannomatosis
rare type of
neurofibromatosis usually
affects people after age 20.
Symptoms usually appear
between ages 25 and 30.
Schwannomatosis causes
tumors to develop on the
cranial, spinal and
peripheral nerves
Symptoms

Chronic pain, which can occur anywhere in the body

and can be disabling
Numbness or weakness in various parts of the body
Loss of muscle
 CAUSES

Neurofibromatosis is caused by
genetic defects (mutations) that
either are passed on by a parent
or occur spontaneously at
conception. The specific genes
involved depend on the type of
neurofibromatosis:
CAUSES
NF 1

01 The NF1 gene is located on chromosome 17. This gene

produces a protein called neurofibromin that helps
regulate cell growth. The mutated gene causes a loss
of neurofibromin, which allows cells to grow
uncontrolled.
NF2

02 The NF2 gene is located on chromosome 22, and

produces a protein called merlin (also called
schwannomin), which suppresses tumors. The mutated
gene causes a loss of merlin, leading to uncontrolled cell
growth
CAUSES
03 Schwannomatosis
two genes are known to cause schwannomatosis. Mutations of the
genes SMARCB1 and LZTR1
Treatment
There isn't a cure for
neurofibromatosis, but signs and
symptoms can be managed.
Generally, the sooner someone
is under the care of a doctor
trained in treating
neurofibromatosis, the better the
outcome.
Thank you