It is a brief description of the Neurofibromatosis genetic disorder. The content include: *Definition of Neurofibromatosis *Symptoms of Neurofibromatosis *Causes & Risk factors *Complications *Tests and diagnosis *Treatments References: Robbins Basic Pathology, 9th Edition. Medical Genetics, 4th Edition. Myoclinic.

1. 
Neurofibromatosis
Done by Hassan Shaker

2. Learning Objectives:
• Definition of Neurofibromatosis
• Symptoms of Neurofibromatosis
• Causes & Risk factors
• Complications
• Tests and diagnosis
• Treatments

3. Definition of Neurofibromatosis
• Neurofibromatosis is a genetic disorder that disturbs cell growth
in the nervous system, causing tumors to form on nerve
tissue(neurofibromas).
• These tumors may develop anywhere in your nervous system
• What kind of tumors are they?
The tumors are usually noncancerous (benign) due to suffix-oma, but
in some cases these tumors become cancerous (malignant)
tumors

4. Symptoms of NF
• Flat, light brown spots on the skin (cafe au lait)
• Freckling in the axillary or groin area.
• Soft bumps on or under the skin (neurofibromas)
• Tiny bumps on the iris of the eye (Lisch nodules)
• Bone deformities(Abnormalities in the way bones grow)
• Short stature.
• Learning disabilities.

5. Causes of Neurofibromatosis
The disorder is caused by a mutation in a gen on chromosome 17
Chromosome
17
Codes
for
Neurofibromin
protein
regulates Ras protein
Promotion
of cell
division

6. Risk factors
• The biggest risk factor is the family history, about the half is
inherited
• It is an autosomal dominant
• The remaining cases result from a spontaneous genetic
mutation occurs with unknown causes

7. Complications
• Neurological problems: learning disabilities.
• Appearance : such as extensive cafe au lait can cause anxiety and emotional
distress, even if they're not medically serious.
• Visual difficulties: occasionally can cause vision loss.
• Cardiovascular problems: risk of getting high blood prussure
• Skeletal problems: scoliosis & osteoporosis.
• cancer

8. Tests and diagnosis
1-Physical examination :
• special lamp to check your skin for light-colored cafe au lait spots.
• Eye exam for Lisch nodules
2-Imaging tests such as X-rays and MRIs, aren't always required, but they can
help identify bone abnormalities, deep tumors
3-Genetic tests
Can be conducted to identify NF

9. Treatments
NF cannot be cured
But it can be managed by:
1-regular monitoring
2-treat the problems when they arise
Surgery
For remove abnormal growth of tumors
For bone problems like scoliosis
Radiation therapy & chemotherapy
To treat some tumors

10. Summary
• It is defect in the chromosome 17
• Characterized by neurofibroma tumor.
• cannot be cured But it can be managed

11. References
http://www.mayoclinic.org
Robbins textbook
Medical Genetics

12. Quiz
Chromosome 17 in NF codes for:
A- Neurofibromin protein
B- Ras protein
C- Both of them

13. Quiz
Neurofibromatosis can cause tumor to growth on nerve tissue in
the nerve system. Where can these tumors can growth?
A-Brain
B- peripheral nerves system
C- Spinal cord
D- All of the above

14. Quiz
Does neurofibromatosis always cause the same symptoms?
A- True
B- False

15. Quiz
Lisch nodules in the eyes can cause vision loss as a complication
A- true
B-False
The actual cause is the malignant tumor in the optic never.
Lisch nodules are harmless and a doctor can detect these lesions using a special
instrument.