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...

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).

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