What are the symptoms of elephant man disease?

Written by rena sherwood
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What are the symptoms of elephant man disease?
Joseph Merrick, one of the world's most famous cases of elephant man disease. (Image from Wikimedia Commons.)

Elephant man disease is the common name of the genetic condition neurofibromatosis (NF). According to Neurofibromatosis, Inc., a person's nervous system will cause the body to grow grotesque tumours on the nerves anywhere on the body. The most famous victim of NF was thought to be Joseph Merrick (1862--1890), nicknamed "The Elephant Man" (pictured), but it is now thought that he actually suffered from Proteus Syndrome. However, the nickname has stuck.

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Types

There are two types of neurofibromatosis: NF-1 and NF-2. NF-1 is more common. NF-2 is generally considered to be more severe. According to the National Institute of Neurological Disorders and Stroke (NINDS), although many patients inherit the gene that causes the tumour growths, 30 per cent to 50 per cent of patients get symptoms due to spontaneous mutation from the person's genes. Why they mutate is unknown.

Age

Symptoms of NF are usually not apparent at childbirth. Huang Chuncai (known as "China's Elephant Man," see resources) did not start showing any symptoms until he was 4 years old. Until then, he looked like any normal child. Once the tumours begin to grow, they grow throughout the rest of the victim's life. According to The Centre for Genetics Education, some victims of NF-2 do not begin tumour growth until they are in their 40s or 50s.

Earliest Symptoms

NINDS states that sometimes the earliest symptoms are unusual skin growths, but people can feel varying symptoms because tumours too small to see are pressing down on nerves. These tumours can cause symptoms such as tinnitus, which is the perception of sound in the ears or head; vision problems; balance problems; numbness on the face; and headaches.

Symptoms NF-1

According to Neurofibromatosis, Inc., symptoms of NF-1 include at least six coffee-coloured spots at least 1.5 cm long in adults (0.5 cm in children), freckling in the groin or armpits, two or more large skin growths called neurofibromas, a tumour around or inside one eye or both eyes (especially in the iris), a bony growth, or other growing deformities of the skeleton.

Symptoms NF-2

Symptoms of NF-2 vary widely for each individual, but some of the most common are vision problems such as cataracts, spinal tumours, hearing loss, severe balance problems, brain tumours, and two or more skin tumours of various sizes. Eventually, the tumours grow so large that they can block vital organs from functioning and cause death.

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