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The Elephant Man's Bones Reveal Mystery

Stumping physicians for 100 years

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Updated May 16, 2014

The Elephant Man

Joseph Merrick, the "Elephant Man"

How Joseph became the "Elephant Man"
When he was two years old, Joseph's mother noticed that some areas of his skin began to change. Some darkened, discolored skin growths were appearing, and they began to look bumpy and rough. Lumps began to grow under the boy's skin - on his neck, his chest, and the back of his head. Mary Jane Merrick began to worry about her son, Joseph, and the other boys were starting to make fun of him. As Joseph grew older, he began to look even more strange. The right side of his head began to grow, as did his right arm and hand. By the time he was 12 years old, Joseph's hand was so deformed it became useless. The growths on his skin were now large and repulsive to look at.

Over the next years, Joseph left home, tried working in a factory but was abused by the workers there, and finally ended up in a freak show. By now his face was distorted by the overgrown half of his head, and the flesh around his nose had grown, too, leading the show promoter to dub Joseph "The Elephant Man."

The wrong diagnosis
Most people know the rest of the story from the 1980 movie, "The Elephant Man," starring John Hurt: how, at first, a doctor, then others including royalty, came to see the intelligent, sensitive man behind the grotesque deformities. People have been moved by the universal message of tolerance of the different found in Joseph Merrick's story. But what most people don't know is that it took 100 years for doctors to correctly identify his medical condition.

At the time Joseph Carey Merrick lived (1862-1890), leading authorities stated he suffered from elephantiasis. This is a disorder of the lymphatic system that causes parts of the body to swell to a huge size. In 1976, a doctor postulated that Merrick suffered from neurofibromatosis, a rare disorder that causes tumors to grow on the nervous system. Photos of Merrick, however, do not show the brown skin spots characteristic of the disorder. Also, his disfigurement came not from tumors but from bone and skin overgrowth. Unfortunately, even today people still (wrongly) call neurofibromatosis the "Elephant Man disease."

It wasn't until 1996 that the answer to what affected Merrick was found. A radiologist, Amita Sharma, of the National Institutes of Health (U.S.), examined x-rays and CT scans of Merrick's skeleton (kept at the Royal London Hospital since his death). Dr. Sharma determined that Merrick had Proteus syndrome, an extremely rare disorder, itself only identified in 1979.

Proteus syndrome
Named for the Greek god who could change his shape, this rare hereditary disorder is characterized by multiple lesions of the lymph nodes (lipolymphohemangiomas), overgrowth of one side of the body (hemihypertrophy), an abnormally large head (macrocephaly), partial gigantism of the feet, and darkened spots or moles (nevi) on the skin. Merrick's appearance, and especially his skeleton, carry all the hallmarks of the disorder, although apparently an extremely severe case. His head was so large that the hat he wore measured three feet in circumference.

The end of the story
More than anything, Joseph Merrick wanted to be like other people. He often wished he could lie down and sleep, but because of the size and weight of his head he had to sleep sitting up. One morning in 1890 he was found lying down in bed on his back, dead. The weight of his head had crushed his windpipe, and he suffocated. He was 28 years old.

Sources:
- Trull, D. The Elephant Man's Mistaken Identity. Enigma magazine, accessed at http://www.parascope.com/articles/0397/elephant.htm
- PageWise. Who Was the Elephant Man? accessed at http://tx.essortment.com/josephmerricke_ogo.htm

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