Proteus Syndrome

Overview

Proteus Syndrome is a condition in which there are large overgrowths of the body's bones, skin and tissue. Most commonly, an individual afflicted with Proteus Syndrome will have asymmetric disfigurement of the bones in the limbs, skull and spine. Those with Proteus Syndrome generally don't show symptoms until 6-18 months and the condition worsens with age.

Sian Mumtaz of Lahore Pakistan

Complications of Proteus Syndrome include: developing benign tumors and deep venous thrombosis (blood clots) that could cause pulmonary embolisms or a blockage of the main artery of the lung.

Causes of Proteus Syndrome 

 Proteus Syndrome, like many other rare medical conditions, is not  inherited but rather due to a  mutation in the AKT1 gene that occurs in one cell in early development. So as cells divide, some cells may have the defective gene while other cells may not. A cell's regulation of growth, proliferation and death is controlled by the AKT1 gene. Mutations in the AKT1 gene causes some cells to divide at uncontrollable rates thus attributing to the development to Proteus Syndrome. Proteus Syndrome is extremely rare and affects less than 1 in one million people worldwide--only a 120 cases have been documented. 

History

One of the earliest documented cases of Proteus Syndrome was of  that of Joesph Merrick--most commonly known as the 'Elephant Man.' It was originally believed that he had suffered from some form of elephantiasis and it wasn't until 1996 where a correct diagnosis was made.

 Joesph Merrick, also known as the Elephant Man died at the age of 28 due to asphyxiation from the weight of his head during his sleep