Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. There are three main types: NF1 appears in childhood and causes cafe au lait spots and freckling; NF2 causes tumors on the vestibular nerve leading to hearing loss and balance problems; and schwannomatosis causes peripheral nerve tumors after age 20. Symptoms vary in severity but can include pain, numbness, and cognitive issues. Diagnosis involves examining the skin and imaging tests. Treatment focuses on controlling symptoms through surgery, chemotherapy, and managing pain. Prognosis depends on the type and severity but neurofibromatosis is not usually life-threatening.

1. Neurofibromatosis
OKEKE PASCHAL

3. What is neurofibromatosis
• Neurofibromatosis is a genetic disorder of the nervous system.
It mainly affects how nerve cells form and grow.
nerve
• A nerve is an enclosed, cable-like bundle of axons in
the peripheral nervous system. A nerve provides a
common pathway for the electrochemical nerve
impulses that are transmitted along each of the axons
to peripheral organs

5. • Neurofibromatosis
• Neurofibromatosis is a genetic disorder that causes tumors to form
on nerve tissue. These tumors can develop anywhere in the nervous
system, including the brain, spinal cord and nerves. Neurofibromatosis
is usually diagnosed in childhood or early adulthood.
• The tumors are usually noncancerous (benign), but sometimes can
become cancerous (malignant). Symptoms are often mild. However,
complications of neurofibromatosis can include hearing loss, learning
impairment, heart and blood vessel (cardiovascular) problems, loss of
vision, and severe pain.

6. History
• Descriptions of what is believed to be the condition go back as far
back as the 1st century. The conditions were formally described by
Friedrich Daniel V.R in 1882, after whom it was previously named.

8. Types
• Neurofibromatosis 1 (NF1)usually appears in childhood. Signs are
often evident at birth or shortly afterward, and almost always by age 10. Signs and symptoms
are often mild to moderate, but can vary in severity.
• Signs and symptoms include:
• 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 is a strong indication of NF1. They are
usually present at birth or appear during the first years of life and then stabilize.
• Freckling in the armpits or groin area. Freckling usually appears by ages 3 to 5.
• Tiny bumps on the iris of your eye (Lisch nodules). These harmless nodules can't easily be
seen and don't affect vision.

10. Neurofibromatosis 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 (acoustic neuromas) in both ears. Also known as
vestibular schwannomas, these tumors grow on the nerve that carries
sound and balance information from the inner ear to the brain.
• Signs and symptoms generally appear in 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

12. Schwannomatosis
• Schwannomatosis–This is a rare type of neurofibromatosis usually
affecting people after the age of 20 years. Schwannomatosis causes
tumors to develop on the cranial, spinal and peripheral nerves.
However, the tumors rarely or do not develop around the
vestibulocochlear nerve (that goes to the ear) and hence doesn't
cause the hearing loss experienced by people with NF2. Common
symptoms are chronic pain, numbness, tingling, and weakness in the
toes and fingers.

14. Epidemiology
• In the United States, about 1 in 3,500 people have NF1, 1 in 25,000 have NF2,
and 1 in 40,000 have schwannomatosis. Males and females are affected
equally often in all three conditions. In NF1, symptoms are often present at
birth or develop before 10 years of age. While the condition typically worsens
with time, most people with NF1 have a normal life expectancy. In NF2,
symptoms may not become apparent until early adulthood. NF2 increases the
risk of early death. Schwannomatosis symptoms develop in early childhood
and can worsen with time. Typically life expectancy is unaffected in those with
schwannomatosis.

15. Pathophysiology
• Neurofibromatosis type I is caused by a mutation on chromosome 17
encoding a cytoplasmic protein known as neurofibromin.[18] This protein is a
tumor suppressor and therefore serves as a signal regulator of cell
proliferation and differentiation. A dysfunction or lack of neurofibromin can
affect regulation, and cause uncontrolled cell proliferation, leading to the
tumors (neurofibromas) that characterize NF1. The neurofibromas caused by
NF consist of Schwann cells, fibroblasts, perineuronal cells, mast cells and
axons embedded in an extracellular matrix. Another function of
neurofibromin is to bind to microtubules that play a role in the release of
adenylyl cyclase and its activity. Adenylyl cyclase plays an essential role in
cognition. Neurofibromin's role in the activity of adenylyl cyclase explains why
patients with NF experience cognitive impairment

16. • Neurofibromatosis type II is caused by a mutation on chromosome
22. The mutation falls on the NF2 tumor suppressor gene. The gene
normally encodes a cytoplasmic protein known as merlin. The normal
function of merlin is to regulate the activity of multiple growth
factors, the mutated copy of the gene leads to merlin's loss of
function. The loss of function leads to increased activity of growth
factors normally regulated by merlin, leading to the formation of the
tumors associated with NF2.

17. • Schwannomatosis is caused by a mutation on the SMARCB1 gene.
This gene is located near the NF2 tumor suppressor gene leading to
the thought that schwannomatosis and NF2 were the same condition.
The two conditions show different mutations on two different genes.
The normal function of the SMARCB1 gene is to encode a protein
called SMARCB1 that is part of a larger protein complex whose
function is not completely understood. The complex including
SMARCB1 plays a role in tumor suppression. The mutation of the
SMARCB1 gene causes a loss of function in the complex leading to the
formation of tumors indicative of schwannomatosis.

18. Diagnosis
The doctor will start with a review of the patient’s personal and family
medical history and a physical examination.
• The doctor will check the skin for cafe au lait spots, which can help
diagnose NF1.
• If additional tests are needed to diagnose NF1, NF2 or
schwannomatosis, the doctor might recommend:

19. • Eye exam. An eye doctor can detect Lisch nodules, cataracts and visual loss.
• Hearing and balance exams. A test that measures hearing (audiometry), a test
that uses electrodes to record your eye movements (electronystagmography)
and a test that measures the electrical messages that carry sound from the
inner ear to the brain (brainstem auditory evoked response) can help assess
hearing and balance problems in people who have NF2.
• Imaging tests. X-rays, CT scans or MRIs can help identify bone abnormalities,
tumors in the brain or spinal cord, and very small tumors. An MRI might be
used to diagnose optic gliomas. Imaging tests are also often used to monitor
NF2 and schwannomatosis.
• Genetic tests. Tests to identify NF1 and NF2 are available and can be done in
pregnancy before a baby is born. Ask your doctor about genetic counseling.
Genetic tests won't always identify schwannomatosis because other, unknown
genes may be involved with the disorder. However, some women choose
genetic testing for SMARCB1 and LZTR1 before having children.

20. • Differential diagnosis
Conditions similar to NF include:
• LEOPARD syndrome
• Legius syndrome
• Proteus syndrome
• Macrodystrophia lipomatosa
• Klippel–Trénaunay syndrome
• Parkes Weber syndrome

21. Prognosis
• In most cases, symptoms of NF1 are mild, and individuals live normal
and productive lives. In some cases, however, NF1 can be severely
debilitating and may cause cosmetic and psychological issues. The
course of NF2 varies greatly among individuals. In some cases of NF2,
the damage to nearby vital structures, such as other cranial nerves
and the brain stem, can be life-threatening. Most individuals with
schwannomatosis have significant pain. In some extreme cases the
pain will be severe and disabling.

22. Treatment
• There is no cure for neurofibromatosis. Treatments for neurofibromatosis focus on
controlling symptoms. There is no standard treatment for NF, and many symptoms, such as
café au lait spots, do not need treatment. When treatment is necessary, options may
include: • Surgery to remove problematic growths or tumors
• Treatment that includes chemotherapy or radiation if a tumor has turned malignant or
cancerous
• Surgery for bone problems, like scoliosis
• Therapy (including physical therapy, counseling or support groups)
• Cataract removal surgery
• Aggressive treatment of associated pain

23. Managment
• Medication
- Medication should be taken regularly as per doctor ordered.
- It is taken time to time, don’t miss medicine dose.
- If miss the medication dose then advice from your doctors or nurses.
- To take regular medicine.
• Nutrition
- Balanced diet should be important for preventing the illness and further
complication.
- I advised to patient take high protein, diabetic diet and fat free diet.
- Use diet plan schedule for calorie management and advised from
dietician. Avoid non-vegetarian diet.

24. • Home care
• Complete bed rest.
• Avoid heavy lifting shifting.
• Regular exercise as per doctor ordered.
• To maintain proper personal hygiene.
• Use mask during traveling. To preventing disease or illness.