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Proteus Syndrome (PS) is a rare congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors on over half the body. This condition would have remained relatively obscure, were it not for the fact that Joseph Merrick – immortalized as the "Elephant Man" for a look imparted by his large facial tumours and the grayish hue of his overgrown skin – is now believed to have suffered from a combination of both Proteus Syndrome and Neurofibromatosis 1 rather than just the NF1 that physican's had theorized as a replacement diagnois for the mistaken elephantiasis diagnosis made originally.

History
Proteus Syndrome is extremely rare. Originally identified in 1979, By Drs. M Cohen and P Hayden, little more than 200 cases have been confirmed worldwide. In 1983 the name Proteus Syndrome was used to describe a "new" syndrome The name Proteus was chosen because it was the name of a shapechanging Greek god. There was some controversy as to the Wiedemann team "naming" a disease described in previous literature. However, it seems that the use of a mnemonic identifier for the disease, the fact that this second team published in a more widely circulated journal, and the fact that Dr. Cohen himself in subsequent papers called it Proteus Syndrome, cooled the controversy.

Description
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. There is a risk of premature death in affected individuals due to deep vein thrombosis (DVT) and pulmonary embolism (PE) caused by the vessel malformations that are associated with this disorder. The disorder affects both genders equally, and can be found in all ethnicities.

The disorder has no documented effect on cognitive ability, and distribution of intelligence among sufferers of Proteus syndrome mirrors that of the general population. 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 known cure.

Many sources classify Proteus syndrome to be a type of epidermal nevus syndrome (see external links). Due to the mosaic distribution of lesions, it is hypothesised (but not confirmed) that the disorder is an example of genetic mosaicism.