Proteus Syndrome- embarrassing and varying body shapes

As I mentioned earlier ‘the elephant man’ is believed to be suffered from a combination of Proteus Syndrome and neurofibromatosis type I. Being curious about what would cause his appearance to change in this way I looked up at similar cases or explanations for it and I found some interesting facts.

Proteus Syndrome or Wiedemann syndrome is a congenital disorder is responsible for abnormal skin and muscle growth and bone structure and form.  It is called after the Greek mythological figure Proteus who had the power to change its own shape.  The form the body takes differs from individual to individual, but it’s normally the skull and the members that are affected. Therefore the only visible similarity between the patients is a malformation which can take any for and can develop anywhere on the body. Due to the extreme enlargement of some muscles, excessive weight, vein thrombosis and vessel malformation may occur, causing heart discomfort that may develop into more severe problems.

Proteus Syndrome I

Proteus Syndrome II- woman with extremely large legs

I was surprised to see that there are only about 200 registered cases of people suffering from it, more than half of them being still alive today.  Knowing this, it’s needless to say that it’s a very rare disease.

If you were wondering what triggers all these symptoms, the causes for it are linked to the genetic material, but are still uncertain.

I guess the question we all have in mind is how we can spot it as soon as possible in order to apply the treatment for it. Being a progressive condition, it grows along with the rest of your body, but in the initial stages of life it’s not at all visible.  The studies made proved that the disorder does not affect the brain functions or the intelligence of the patient.

I always found it fascinating how the smallest modification in the DNA structure might give a completely different look to our bodies and a completely different turn to our lives…

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