What is Proteus Syndrome
Proteus syndrome is a special type of skin, bone and tissue disorder which affects the human body. The syndrome affects the body by causing skin overgrowth as well as several different types of bone and tumor growths as well. It is a very strange situation for the body because only one half of the body is affected by this overgrowth. The amazing thing is that this growth can progress throughout the life of the individual and will continue to grow and cause deformities.
Causes of Proteus Syndrome
The main cause of Proteus syndrome is genetics. Genetics are what cause the imbalance of the body to be able to really control which side grows as well as what needs to grow and when to stop. All types of tissues are affected through this congenial disorder. It is not uncommon for children to be born with it and not show any signs of the disorder until they are older. There is a wide range of different types of deformities which can occur and depending on the severity of the disorder for each individual, it may or may not be noticeable. Severe cases are very noticeable and one of the most notable examples is through Joseph Merrick, who had an extreme case of Proteus syndrome.
Joseph Merrick is well known as the “Elephant Man” and a sideshow attraction. He was originally thought to have elephantiasis, which is a similar condition but was not proven at the time. He was a very popular sideshow act and was often placed in a cage as an attraction at a Zoo would be. He is known to say “I am not an Animal” fiercely. The deformities that he had on his body were extensive throughout his entire right side. From his cranium down to his feet, his entire right side was covered in excessive skin growth over muscle tissue and bone which were malformed.
Symptoms of Proteus Syndrome
There is a wide range of different symptoms that people with Proteus syndrome may notice throughout their lifetimes. As children, they may feel relatively normal and develop fine just as any other child would. These are the following symptoms of early childhood Proteus Syndrome:
Growths – Growths of the skin, lesions and tumors as well as the abnormal and asymmetrical growth of one side of the body is noted. At first it can be very small growths which may actually be misdiagnosed as something else. It is important to remember that these growths are naturally occurring and are difficult to notice until the damage has already been done if diagnosed in time.
Slight Pain – Pain from these growths because of their abnormal shape or textures is almost always present. They may stretch and dry out skin and other tissues and cause discomfort or pain in the areas where the growth is occurring. The most uncomfortable thing which occurs with this symptom is that children enjoy picking at and scratching the areas which can cause dry skin and irritation.
Weight Gain – One of the other things that may occur is weight gain on the side which is affected by Proteus syndrome. The weight gain can be minimal or substantial but it does occur. The opposite may occur when the organs that regulate metabolism are affected by the disorder as well, meaning loss of weight everywhere else.
Deformities – Small deformities such as a lump or tissue that seems out of place can occur. It happens most often in locations where the tissues first started showing overgrowth. This makes it possible to start seeing that there is a problem, but it may not tip towards Proteus Syndrome enough.
Adults will of course notice these previous symptoms and problems, but there is more which could be potentially harmful. Cognitive development may be normal and the person could live pretty much like a normal person but with the deformities which occur in their condition. The following are symptoms which can develop when the person gets older and the condition progresses:
Cognition Interruption – Since the cranium is affected by the growths in most cases, it can actually cause damage to the brain as the size of the bone continues to grow into the brain. This can cause pressure and unnecessary stress on the brain which then affects the person. This can be very damaging and even be fatal if not prevented.
Disability – The growths of bone and other tissues can cause disabilities with mobility. Of course this is different in every case. Some of the people who are affected by Proteus syndrome may even have increased ability for a period of time. The growths can be unpredictable and could vary in severity which will affect the severity of the disability.
Increased Tumor Production – Many of the patients who do have Proteus syndrome will notably have increased tumor production as well as a higher risk of developing certain kind of tumors. The tumors can grow very large and very quickly because of the condition and could increase the severity of the deformity in the individual.
Diagnosis for Proteus Syndrome
The reason why it is very difficult to diagnose Proteus syndrome is because of how it grows. It can easily grow from small lumps to very large and disfiguring tumors in a matter of years. Most people go undiagnosed for several years because they do not believe it is a problem. Once it gets too bad, is when it is too late and little or no help can be offered to alleviate the condition. The most readily available people who can undergo diagnosis are already too far into the damages caused by the disorder. They are the most disfigured of the group and would require many operations (if possible) to get back to a comfortable and normal level.
Treatment and Cure of Proteus Syndrome
Once a diagnosis is made for those who are fortunate enough to catch it in its early stages allows for the best outcome and better prognosis once treatment is administered. Damages which have already occurred may have variable possibilities to reverse or help. The most important thing is to do necessary work on the body parts that need to be altered to increase mobility and offers better comfort and support from the body. There is only one known cure which can be done through the use of a drug called Sirolimus and is also known as Rapamycin. It was discovered to help cure the effects of Proteus syndrome in the body by a team of Australian researchers.
Rapamycin is a special drug that is used as an immunosuppressant which helps to prevent rejection of organs during a transplant. The use of the drug to treat Proteus syndrome has shown to be effective in preventing the body from producing excessive growth of the tissues. This helps to reduce the effects of Proteus syndrome and can offer relief from the symptoms when used in conjunction with the different treatments to reconstruct the body parts to a more normal physique. This can also be a useful option for those with Proteus syndrome which may cause damages to the brain and other parts of the body which can really damage the system as a whole.