Neurofibromatosis cannot be prevented. People with a family history of the disease may choose to undergo genetic testing and counseling to determine if they are at risk for transmitting NF to their offspring.

1. NEUROFIBROMATOSIS
By; jagdish sambad
FY MSC NURSING
IKDRC COLLEGE OF NURSING

3. Review of anatomy and physiology
• A nerve is an enclosed, cable-like bundle of
axons (nerve fibers, the long and slender
projections of neurons) 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 your nervous
system, including your 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. Cont..
• Neurofibromatosis treatment aims to
maximize healthy growth and development
and to manage complications as soon as they
arise. When neurofibromatosis causes large
tumors or tumors that press on a nerve,
surgery can help ease symptoms. Some
people may benefit from other therapies, such
as stereotactic radiosurgery or medications to
control pain.

7. Types:
• NeurofNeurofibromatosis 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. Freckles are smaller than cafe
au lait spots and tend to occur in clusters in skin folds.
• Tiny bumps on the iris of your eye (Lisch nodules).
These harmless nodules can't easily be seen and don't
affect vision.

8. 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

9. Risk factor
• The biggest risk factor for
neurofibromatosis is a family
history of the disorder. About
half of people with NF1 and
NF2 inherited the disease. NF1
and NF2 that isn't inherited
results from new gene
mutations.
• NF1 and NF2 are both
autosomal dominant
disorders, which means that
any child of a parent with the
disorder has a 50 percent
chance of inheriting the
genetic mutation.

10. causes
In book
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:
NF1. The NF1 gene is located on chromosome 17. This gene normally 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. The NF2 gene is located on chromosome 22, and produces a protein call merlin. The
mutated gene causes a loss of merlin, leading to uncontrolled cell growth.
Schwannomatosis. So far, two genes are known to cause schwannomatosis. heart disease and
endocarditis

12. Clinical manifestation
- Cutaneous Multiple café au lait spots(95% or less)
- Intertriginous freckling (65%-85%)
- Dermal Neurofibromatosis (65%-85%)
- Xanthogranulomas (2%-5%)
- Hemangiomas (5%-10%)
- Ophthalmologic
- Optic nerve pathway tumor (15%)
- Lisch nodules (65%-85%)
- Glaucoma (rare)
- Musculoskeletal
- Sphenoid wing dysplasia (1%)
- Long-bone bowing (2%-5%)
- Scoliosis (20%)
- Short stature (25%-35%)
- Relative macrocephaly (45%)
- Cardiovascular
- Hypertension (2%-5%)
- Congenital heart defect (2%)
- Neurological
- Hydrocephalus (5%)
- Enlarged head circumference
- Seizures (11%)
- Educational/learning difficulties (40%-60%)
- Sensor neural hearing loss (5%)
- Precocious puberty (2%-5%)
- Tumors
- Plexiform neurofibromas (50%)
- Malignant peripheral nerve sheath
- tumors (5%-10%)
- Central nervous system gliomas(2%)
- Pheochromocytoma,

13. Investigation
In book
History and physical examination
Labs include CBC
USG & CT scan
MRI scan

14. 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.

15. NURSING MANAGEMENT:
• Nursing assessment:
• Obtain the detail history of patient.
• Monitor the patient for symptoms.
• Monitor the vital sign.
• Physical Assessment.
• Check the frequently intravenous site if any reaction
during continuing antibiotic injection.
• Maintain intake and output chart.
• Avoid taken fat and cold drink to this type patient.
• If the patient having history of the diabetes mellitus
then monitoring random blood sugar accurately and
then administer insulin.
• To give details health education regarding the
neurofibroma.

16. Nursing diagnosis
1. Acute pain and discomfort related to treatment and prolonged immobility
as evidenced by oral complaint of patients and discomfort.
2. Altered nutrition level: less than body requirement related to inadequate
intake of food by the patient as evidenced by weakness, fatigue.
3. Knowledge deficit related to the disease condition and recovery as
evidenced by the anxiety and frequent questioning.
4. Sleep pattern disturbance related to the hospitalization as evidenced by
drowsiness and discomfort.
5. Risk for injury related to seizures, disorientation and brain damage.
6. Ineffective therapeutic regimen related to lack of knowledge regarding
Neurofibromatosis and its management as evidenced by frequent question
prognosis.

17. Health education
Given health education on various aspects of
health, disease condition its causes, sign and
symptoms, diagnostic investigation, treatment
and follow-up during his stay in the hospital and
at the time of discharge.
• Disease condition
• Given health education regarding
neurofibromatosis its causes and management.
• I also given health education regarding the
prevention of neurofibromatosis.

18. Cont..
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.

19. Cont..
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.
Follow-up
• Neuro- surgical OPD for follow up.