Neurofibromatosis

The “Elephant Man Disease” Neurofibromatosis

What Causes Neurofibromatosis? • Neurofibromatosis is caused by tumors that grow along nerves in the body. • Tumors that grow too big can press against vital parts of the body, causing problems. • The disease can be transmitted from parent to child, or can develop from mutations in genes.

Who Does It Affect? • Neurofibromatosis affects around 100,000 Americans regardless of gender, race, or ethnicity. • Signs and symptoms are usually apparent at a young age. • Most cases of NF are among children, but can also develop in adults.

Where/How It Affects the CNS/PNS • Since Neurofibromatosis affects nerves throughout the affected parts of the body, it has the potential to attack the nerves of the Brain and spinal cord. • Brain tumors can severely damage brain tissue. • Tumors will likely grow on other vital organs. • Tumors can disrupt nerve signals in the eyes, causing vision impairments

Symptoms of Neurofibromatosis? • There are 2 types of NF: NF-1 and NF-2. Neurofibromatosis-1 Common type. Characterized by: • tan/brown patches on the skin. • Small skin lesions • bone defects • visual disorders • Freckles in the armpit or groin area Neurofibromatosis-2 Rare type. Characterized by: • bilateral acoustic neuromas (masses around the eight cranial nerve in the brain) • hearing loss • Headaches • unsteadiness. • Brain tumors can occur

Prognosis • Most cases of NF-1 are mild, and those affected are able to live ordinary lives. • Some cases can be severe enough to cause physical and psychological problems. • Tumors can damage nearby vital structures, such as cranial nerves and the brain stem, which can be potentially fatal. • People who have severe NF-2 could face extreme pain and deformities. • The symptoms of NF-2 can vary greatly from person to person

Is There A Cure? • There is no cure for neurofibromatosis, but there are treatments to control it, like: • Surgery (most common and recommended treatment) • Chemotherapy • Radiation • These treatments can also reduce the size of tumors around the eyes to restore vision. • NF2 tumors can be detected using advanced diagnostic technologies • Many bone mutations caused by tumors can be surgically corrected.

“The Elephant Man” • The famous Elephant Man was a man who supposedly had a very rare and severe case of neurofibromatosis. His real name was John Carey Merrick. He was born on August 5th, 1862 in Leicester, England. His body began deforming around age 5. His skin started growing disproportionally throughout his body. The skin got thick, rough, and dry. His bones became mangled and twisted. He could barely even speak. He found a job working in the circus as a human freak, presenting himself to the world. This eventually made him an international celebrity and a topic of great curiosity, all for the wrong reasons. Merrick’s deformities continued to get worse and he was hospitalized. He died at age 27 from asphyxiation in his sleep.

A Few Organizations… • Neurofibromatosis, Inc. Post Office Box 66884Chicago, IL 60666admin@nfnetwork.orghttp://www.nfnetwork.org • Children's Tumor Foundation95 Pine Street16th FloorNew York, NY 10005info@ctf.orghttp://www.ctf.org • Acoustic Neuroma Association600 Peachtree ParkwaySuite 108Cumming, GA 30041info@anausa.orghttp://www.anausa.org

Works Cited • Neurofibromatosis. Kid’s Health. http://kidshealth.org/parent/general/aches/nf.html • NINDS Neurofibromatosis Information Page. National Institute of Neurological Disorders and Stroke.http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm • Health Scout. http://www.healthscout.com/ency/1/538/main.html#symptoms • A Medical Monster: The Story of the Elephant Man. Word Press. http://scheong.wordpress.com/2011/06/19/a-medical-monster-the-story-of-the-elephant-man/

Neurofibromatosis