Its for education purpose

1. NEUROFIBROMATOSIS
SUBMITTED BY FAZILA FATIMA
SUBMITTED TO : DR AFSHAN

2. INTRODUCTION

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.

4. COMPLICATIONS
 The tumors are usually noncancerous (benign) but sometimes can become cancerous
(malignant)
 However complications of neurofibromatosis can include
1. hearing loss
2. learning impairment
3. heart and blood vessel (cardiovascular) problems
4. loss of vision
5. severe pain

5. TYPES
 Neurofibroma -- A neurofibroma is a type of nerve tumor that forms soft bumps on or under
the skin
 There are three types of neurofibromatosis, each with different signs and symptoms
1. Neurofibromatosis type 1 (NF1) also known as von Recklinghausen disease
2. Neurofibromatosis type 2 (NF2)
3. Schwannomatosis (SWN)

6. NEUROFIBROMATOSIS TYPE I (NF-1)
 Neurofibromatosis type I (NF-1)or von Recklinghausen syndrome is a complex multi-system human
disorder.
 NF-1 is a microdeletion syndrome caused by a mutation of a gene located on chromosomal segment
17q11.2 on the long arm of chromosome 17 which encodes a protein known as Neurofibromin.
 The gene is responsible for production of a protein (Neurofibromin) which is needed for normal
function in many human cell types.
 NF-1 is an autosomal dominant disorder

7. SIGN AND SYMPTOMS
 Signs and symptoms include:
 Flat, light brown spots on the skin (cafe au lait spots)
 Freckling in the armpits or groin area.
 Tiny bumps on the iris of your eye (Lisch nodules)
 Soft bumps on or under the skin (neurofibromas)

8. CONTINUE….
 Bone deformitiesdeformitie
 Tumor on the optic nerve (optic glioma)
 Learning disabilities
 Larger than average head size
 Short stature

11. NEUROFIBROMATOSIS TYPE 2
 Neurofibromatosis 2 (NF2) is much less common than NF1
 Neurofibromatosis type II (NF2 or NF II) is caused by mutations of the “Merlin” gene which
seems to influence the form and movement of cells.
 NF2 is caused by inactivating mutations in the NF2 gene located at 22q12.2 of chromosome 22
 Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound
balance information from the inner ear to the brain.

12. SIGNS AND SYMPTOMS
 Signs and symptoms can include:
 Gradual hearing loss
 Ringing in the ears
 Poor balance
 Headaches

14. SIGN AND SYMPTOMS OF SCHWANOMAS
 Sometimes NF2 can lead to the growth of schwannomas in other nerves of the body including
the cranial, spinal, visual (optic) and peripheral nerves
 Signs and symptoms of these schwannomas can include :
 Numbness and weakness in the arms or legs pain
 Balance difficulties
 Facial drop
 Vision problems or the development of cataracts

15. SCHWANNOMATOSIS
 Schwannomatosis This rare type of neurofibromatosis usually affects people after the age of
20
 Schwannomatosis causes tumors to develop on skull (cranial), spinal and peripheral nerves —
but not on the nerve that carries sound and balance information from the inner ear to the
brain

16. COMPLICATIONS
 NF1 complications
 Neurological problems
 Skeletal problems
 Vision problems
 Cardiovascular problems
 Breathing problems

17. CONTINUE…
 NF2 complications
 Partial or total deafness
 Facial nerve damage
 Vision problems

18. DIAGNOSIS
 Eye exam
 Ear exam
 Imaging tests - X-rays, CT scans or MRIs
 Genetic tests-Tests to identify NF1and NF2
are available

19. TREATMENT
 Surgical removal of tumors is an option
 However the risks involved should be assessed first.
 With regard to OPG (optic pathway gliomas), the preferred treatment is chemotherapy.
 However, radiotherapy is not recommended in children

20. CONCLUSION
 A rare genetic disorder that typically causes benign tumors of the nerves and growths in other parts of
the body, including the skin.