Proteus Syndrome is a syndrome where there is overgrowth of the skin and unusual bone development. often with tumors over half of the body. This is an extremely rare condition, and is said to have affected only a little over 200 people. Organs and tissues that have been affected by this tend to overgrow in contrast to the body. Overgrowth is barely noticeable at birth, but is prominent between the ages of 6 to 18 months. There is a risk of death prematurely due to malformations of the vessels. Proteus Syndrome is not passed on from either parent, nor is it caused by environmental factors before or during pregnancy. It is said to be caused by a mosaic mutation in a gene called ‘AKT1’. Diagnosis of Proteus Syndrome include Mosaic distribution, sporadic occurrence and progressive course. A drug named Rapamycin has been used by a team in Australia to treat this disease, and have found it effective. But, each patient will have different needs to treat this. A surgery may be required to treat this completely.
How does Proteus Syndrome look like?
There is an overgrowth of the skin and an unusual bone development.
Look at some pictures of people suffering from Proteus Syndrome.