Rare Conditions |Proteus Syndrome 

Proteus syndrome 

Commonly known as elephant man syndrome, Proteus syndrome is a rare condition that is characterized by an overgrowth of bones, skin, and tissue. The organs affected grow un-proportional. The condition is named after a Greek sea-god Proteus known to change its shape.

Proteus syndrome was first described by Drs Samia Temtamy, and John Rogers, Dr. Michael Cohan letter described it in 1979. In 1979, only 200 cases were confirmed worldwide. Currently, there are about 170 confirmed cases.  Proteus syndrome progresses with years, people are normal at birth, symptoms start showing as the disease progresses (National Human Genome Institute.2013).


The most popular person to have had Proteus syndrome is Joseph Carey Merrick, Joseph Merrick died in 1890 at the age of 27. The official cause of death is asphyxia, although a recent autopsy showed that he died of a neck dislocation from the weight of his head. Joseph Merrick deformity made him a sideshow in life, he was rejected by his own family and was exhibited at a freak show, then lived the rest of his life in a London hospital.

Deformity characteristic of Proteus syndrome  


commons.wikimedia.org/Joseph Carey Merrick


Current research shows that mosaic activation in AKT1 gene to be associated with Proteus syndrome. AKT1 gene helps regulate growth and division of cells, and mutation in this gene will hinder the ability of the cell to regulate its own growth.

The increase in cellular growth and division in different organs is what leads to abnormal growth in Proteus syndrome (Lindhurst  et al., 2011). Because AKT1 gene mutation is what causes Proteus syndrome and it happens during early fetal development. Proteus syndrome is not inherited and does not run in families



Some complications that can arise from Proteus syndrome include neurological abnormalities, seizures, and vision loss. An individual with the condition may have deformed facial features.

Other complications include increased of developing benign tumors and deep vein thrombosis of the legs and arms. DVTs happen in the deep veins of the legs and arms. when these clots break off they can lodge themselves in lungs which in turn causes pulmonary embolism. Pulmonary embolism is the most common cause of death in people with Proteus syndrome.

If you want to know more about the condition the links are provided below.


Lindhurst , M. J., Sapp , J. C., Teer , J. K., Johnston , J. J., Finn , E. M., Peters , K., . . . Biesecker , L. G. (2011). A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome. New England Journal of Medicine, 365(7), 611-619. doi:10.1056/NEJMoa1104017

National Human Genome Institute. (2013). Proteus Syndrome.   Retrieved from https://www.genome.gov/27544874/proteus-syndrome-backgrounder/




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