Proteus Syndrome Research Paper

Proteus Syndrome causes the overgrowth of tissues, including skin and bones. The growth is often asymmetrical, and the tissues affected by the disease do not become larger in proportion to the rest of the body. An extremely rare condition, only a few hundred cases of Proteus Syndrome have been recorded - including, scientists speculate, the "Elephant Man" Joseph Merrick (photo here).

Overgrowth can strike any part of the body in different degrees, and while the limbs, spine, and skull are the most common targets, fat and blood vessels may also be affected. Proteus syndrome may also affect the brain (through seizures, for example) and increase the risk of developing tumors.

This condition is caused by a mutation in the AKT1 gene, which regulates