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Bone Deformation: What is Proteus Syndrome?

Image via http://www.discoveryuk.com/web/meet-the-elephant-man/photos/

Proteus Syndrome is a rare disease that causes overgrowth of skin and muscles, and abnormal bone growth.

Children born with the disease will often not show any signs of it because the skin tumors and bone growths appear as a child with the disease grows. This is known as a progressive condition.

For a long time, it as unknown why the condition occurred. In 2011 scientists learned that the cause of Proteus syndrome is an activating mutation on a protein enzyme, called AKT1 kinase, on a mosaic state gene. This type of enzyme plays a big role in how cells grow and duplicate.

Joseph Carey Merrick also known as the Elephant Man was believed to have had Proteus Syndrome.

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