Supporting the Proteus Syndrome Foundation
Proteus Syndrome

       What is Proteus Syndrome?

·         Proteus Syndrome is a condition which involves atypical growth of the bones, skin, head and a variety of other symptoms.

·         The name comes from the greek God Proteus who used to change his shape or form.

·         it is very rare, variable and progressive, affecting more males than females and the cause of is unknown.

·         The syndrome became more widely known when Joseph Merrick (the patient depicted in the play and movie "The Elephant Man") had severe Proteus syndrome rather than Neurofibromatosis as had been previously suggested.

     What are the signs?

1.    Overgrowth, asymmetry (none symmetry) and gigantism of the limbs.

2.    Increased size of an organ, or the body, or bones (Hypertrophy)

3.    Raised rough skin (verrucous epidermal naevi)

4.    Deep lines and overgrowth of soft tissue on the soles of the feet (cerebriform connective tissue nevus)

5.    Patches of overgrown blood or lymphatic vessels (vascular malformations)

6.    Local overgrowth of fat (lipomas)or undergrowth of fat

7.    Various tumours are more common in patients with Proteus syndrome, but most are benign

8.       Deep vein thromboses (blood clots) and the lodging of these blood clots in the lungs. This can be life threatening.

Here are a few FAQ about Proteus Syndrome:

How is Proteus Syndrome diagnosed?
The diagnosis is very difficult, especially in infancy. Because the disorder is so variable and there is no laboratory test, it is diagnosed by a combination of clinical findings. In many situations, it may be impossible to make the diagnosis. Many persons carry several other diagnoses before they are given the PS diagnosis. In contrast, it is now clear that a significant number of people who do carry the PS diagnosis do not have it. Both of these issues emphasise the difficulty of making the diagnosis.

Can adults with PS have children?
There are no confirmed cases of PS where it has occurred twice in same family. If the theory is correct, we would not expect this to happen very often, if at all. Because of its rarity, there are few patients to base this on. In the end, decisions about reproduction in people who have, or are at risk for, a potentially inherited disorder are personal and private.

Is Proteus Syndrome life threatening?
This is unknown. From reading medical articles, it appears that there are many more affected children than adults, consistent with possible early mortality risks. Such estimates are frequently wrong as there are other potential explanations. However, there are a couple of factors that suggest the risk may be real. First, there are a number of pateints with Proteus who have had tumors, and some of those have been serious. Second, there are a number of persons with Proteus who have died from blod clots that started in the legs and then broke free and went to the lungs, causing death. We don't know how often either of these happen, but it is possible that these may cause there to be fewer adults than children. Insofar as the tumor issue is concerned, we do not have enough evidence that the risk is real nor do we see a sufficiently consistent pattern of tumors to recommend specific screening. For the time being, regular medical checkups will have to suffice. We are well aware that "iffy" information like this is at best unsatisfactory, and at worst frightening and frustrating. We and others are working hard to gather information through clinical research studies to try to answer these questions in a more clear manner.

Some links to other Proteus sites, and helpful pages:

Proteus Syndrome Foundation USA
Support group in Germany
eMedicine World Medical Library: Proteus Syndrome

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