Neurofibromatosis is a genetic disorder that causes non-cancerous tumors to grow on nerve tissue. There are three main types that have varying signs and symptoms. The tumors can develop anywhere in the nervous system and sometimes become cancerous. Complications include hearing loss, learning problems, pain, and vision issues. Diagnosis involves medical exams and imaging tests, while treatment focuses on surgical removal of tumors or chemotherapy depending on the type and location.

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.