GROUNDBREAKING NEWS! THE CAUSE OF PROTEUS SYNDROME HAS BEEN DISCOVERED!
Dr. Leslie Biesecker at the NIH has identified the genetic mutation that causes Proteus syndrome. For more information on this exciting finding see our FAQ and Medical Research sections. For more information: http://www.proteus-syndrome.org
Follow this link to the NIH website to learn more. http://www.genome.gov/27544866
The syndrome became widely known by the movie and Broadway play ‘The Elephant Man’.
What is Proteus syndrome?
Proteus syndrome is a rare overgrowth condition. The overgrowth in Proteus syndrome can cause differences in the appearance and growth rate of various body parts. This overgrowth is also typically asymmetric, that is, it does not affect corresponding body parts similarly. The word “Proteus” comes from the name of the ancient Greek god of change; this name was chosen because the overgrowth in Proteus syndrome can cause changes in the shapes of body structures over time.
How common is Proteus syndrome?
Proteus syndrome is very rare. Only a few hundred people are thought to be affected with this condition worldwide. Because it is so rare, it can be difficult for doctors to accurately diagnose Proteus syndrome.
What causes Proteus syndrome?
The cause of Proteus syndrome is unknown, but it is thought to be caused by a change in a gene that regulates growth. This gene change is not inherited from either parent; instead, it happens very early in development, before birth. Researchers are trying to find this gene change and determine if this theory is correct. We do know that Proteus syndrome is NOT caused by anything either parent does (or does not) do before or during pregnancy. Proteus syndrome is not caused by any environmental exposures before or during pregnancy. Mutations in a gene called PTEN cause a disorder that is similar to, but distinct from, Proteus syndrome.
What medical problems can Proteus syndrome cause?
Proteus syndrome can affect any part of the body but commonly affects the bones and skin. Overgrowth of a bone can cause orthopedic problems, and overgrowth of the skin can cause cosmetic and other concerns. Less commonly, individuals with Proteus syndrome have lung problems that require monitoring. Many children and adults with Proteus syndrome have normal intelligence and have good general health. Children and adults with Proteus syndrome are at risk to get a type of blood clot called a “DVT,” or deep vein thrombosis, which can cause a serious problem called a pulmonary embolism. It is important for doctors caring for people with Proteus syndrome to be aware of this risk.
It is important to realize that every person with Proteus syndrome is different and that no two people with this condition will have the same medical concerns.
How is Proteus syndrome treated?
Each person with Proteus syndrome will have different medical needs that need individualized treatment. Many patients with Proteus syndrome are followed by a geneticist or another doctor, such as a pediatrician (for children) or internist (for adults) who coordinates their medical care. Many manifestations of Proteus syndrome (for example, skin changes and fatty overgrowth) rarely require aggressive or frequent treatment. In other cases, a particular feature may be monitored over a period of time before a treatment decision is made. Many patients with Proteus syndrome are followed by an orthopedic surgeon for their bone problems and there are a number of treatments available to reduce the overgrowth in the limbs or digits. Other specialists who might be involved in the care of a person with Proteus syndrome include a dermatologist (skin doctor), physiatrist (rehabilitation medicine doctor), pulmonologist (lung doctor), physical/occupational therapists, and a pedorthist (a person who makes shoe and other orthotics). People with Proteus syndrome should also be seen by a hematologist (blood doctor) for an evaluation a few weeks before having surgery so doctors can consider the risk for blood clots and possible ways to reduce the chances for blood clots.
Why Raise Money?
The Proteus Syndrome Foundation raises money to help find the cause of and cure for Proteus syndrome. We were able in 2010 to give the National Institutes of Health a $50,000 grant for research. It is so important to discover what is causing this syndrome. If we can isolate the cause it will be much easier to diagnose. Then the next step will be to determine if there is anything that can be done to stop it from progressing once it is diagnosed. Once the cause is determined it will be just another beginning for more research to save these wonderful children who suffer from this life threatening disease.
