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Why is neurofibromatosis called "Elephant Man's disease"?

Learn about neurofibromatosis, the disease that deformed the Elephant Man, Joseph Merrick.

Researchers have recently made strides in identifying the genetics behind neurofibromatosis. [© Shutterstock, 2010]
© Shutterstock, 2010
Researchers have recently made strides in identifying the genetics behind neurofibromatosis.

Neurofibromatosis or Von Recklinghausen's disease (for the German doctor who first described the disease in detail) severely deformed the Englishman Joseph Merrick (1862-1889), who was referred to as "the Elephant Man."

Neurofibromatosis is an uncommon inherited developmental disorder of the nervous system, bones, muscles and skin. Occurring in one in every three thousand births, its symptoms generally appear during childhood or adolescence. It is characterized by numerous soft, fibrous swellings that grow on nerve trunks of extremities, head, neck, and body; cafe au lait spots (pale, coffee-colored patches) on the skin of the trunk and pelvis; scoliosis and short stature.

In most cases, neurofibromatosis affects only the skin. But if the soft fibrous swellings occur in the central nervous system they can cause epilepsy, affect vision and hearing, and can shorten lifespan. Surgical removal of neurofibromas is necessary only if they cause complications or are likely to do so.

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