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Proteus syndrome

Proteus Syndrome (PS) is a congenital disorder that causes skin overgrowth, atypical bone development, and tumour appearance over half the body. Proteus Syndrome is extremely rare. Since Dr. Michael Cohen identified it in 1979, only a few more than 100 cases have been confirmed worldwide. more...

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There may be many more than this, but those individuals correctly diagnosed usually have the most obvious manifestations of Proteus syndrome, leaving them severely disfigured.

This extremely rare condition would have remained obscure, were it not for the fact that Joseph Merrick - immortalized as the "Elephant Man" for a look imparted by his large facial tumour and the grayish hue of his overgrown skin - was lately diagnosed as having a particularly severe case of Proteus syndrome rather than, or in addition to, the neurofibromatosis (NF) doctors once thought he had.

Proteus syndrome is a progressive condition, wherein children are usually born without any obvious deformities. As they age, tumours as well as skin and bone growths appear. Some affected individuals may suffer from learning disabilities as a result of these growths, and a significantly shortened lifespan. The disorder affects both genders equally, and can be found in all ethnicities.

Like Merrick, however, many people with Proteus syndrome are of normal or above-average intelligence. Their greatest difficulty lies in how society treats them on account of their serious deformities.

Researchers are still trying to determine the cause(s) of Proteus syndrome. While doctors can treat some of the symptoms (by removing tumours, for example), there is no cure.

Many sources classify Proteus syndrome to be a type of epidermal nevus syndrome (see external links).

Read more at Wikipedia.org


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As of '87, he's Proteus Man - Elephant Man found to have suffered from Proteus syndrome
From Science News, 7/25/87

As of '87, he's Proteus Man

Neurofibromatosis, the genetic disorderthat has come to be known as Elephant Man disease (SN: 6/6/87, p.359), was probably not the cause of the Elephant Man's deformities. That is the conclusion of a National Institutes of Health panel, which last week released its final report on the incurable disease. The report doesn't address directly the case of Joseph Merrick--the 19th-century "Elephant Man' who later became the subject of a popular movie and play. But according to panel chairman David A. Stumpf, it was the group's consensus that Merrick actually suffered from an extremely rare disease known as the Proteus syndrome. The updated diagnosis is of more than historical interest, as it may help to free neurofibromatosis victims from the fear of the severe deformation that is more properly associated with the Proteus syndrome. The experts recommend areas for further research, and one panelist predicts that the neurofibromatosis-causing gene will be definitively identified in the next year or two--a critical step in the development of a treatment or cure.

COPYRIGHT 1987 Science Service, Inc.
COPYRIGHT 2004 Gale Group

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