1 PPT BY: YUHUI LEE NEUROFIBROMATOSIS. 2 WHAT IS NEUROFIBROMATOSIS? Neurofibromatosis (Recklinghausen's disease) is a rare type of autosomal dominant.

1PPT BY: YUHUI LEE

NEUROFIBROMATOSIS

2

WHAT IS NEUROFIBROMATOSIS?

• Neurofibromatosis (Recklinghausen's disease) is a rare type of autosomal dominant genetic disorder that stimulates the development of tumors in the nervous system or underneath the skin.

3

CAUSES

• In 50% of the cases, individuals who are diagnosed with NF are found to have inherited mutated genes from their parents

• Spontaneous mutation in genes accounts for the remaining 50%

4

SYMPTOMS

• NF1:

Pigmented spots on skin

(café-au-lait)

Tumors on iris of the eyes (Lisch nodules)

Freckles under armpit

Growth of neurofibromas along nerve tissues/ underneath the skin

Curvature of spine(scoliosis)/ malformation of bones

Hearing loss

NF2Loss of balanceFacial pain and weaknessHeadache Hearing loss Tinnitus Growth of tumors (glioma, schwannoma, meningioma

5

TYPES OF NEUROFIBROMATOSIS

• NF1The most common type of NF,

found in 1 out of 3000 individuals Usually occurs during adolescence Characterized by the development

of neurofibromasCause: mutation on chromosome

17code for defective neurofibromin cannot bind to Ras protein or regulate its activity cell undergoes uncontrollable growth formation of tumors

6

NF1

A: Bilateral pheochromocytomas. B: Axillary freckling. C: Café-au-lait spots. D: Lisch nodules

7

TYPES OF NEUROFIBROMATOSIS

• NF2Also known as bilateral acoustic

neurofibromatosis or central neurofibromatosis

Usually affects 1 in 40,000 individuals

Characterized by the growth of schwannomas along the eighth cranial nerve, damaging acoustic nerve (responsible for relaying sound information to brain)&vestibular nerve (responsible for maintaining balance)

Tumors may enlarge and press against nearby nerves

8

NF2

9

Treatment

• Surgery• chemotherapy• radiation• Prevention: MRI scan, genetic testing, psychological tests

9

10

Works CitedKhara, Kanika. "Neurofibromatosis: Causes, Symptoms and Treatment." Buzzle. N.p., n.d Web. 01 June 2013. <http://www.buzzle.com/articles/neurofibromatosis-causessymptoms-and-treatment.html>. "Learning about Neurofibromatosis." National Human Genome Research Institute. N.p., n.d. Web. 04 June 2013. <http://www.genome.gov/14514225>. "Neurofibromatosis Fact Sheet." National Institute of Neurological Disorders and Stroke (NINDS). N.p., n.d. Web. 01 June 2013.<http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm>. “NEUROFIBROMATOSIS TYPE 1 (NF1)”. Learn. Genetics. N.p., n.d. Web. 02 June 2013.<http://learn.genetics.utah.edu/content/disorders/whataregdnf/>. "Neurofibromatosis 2." Massachusetts General Hospital. N.p., n.d. Web. 04 June 2013.<http://neurosurgery.mgh.harvard.edu/nfclinic/nf2.htm>.