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Before proceeding the story further I'd like to tell all of you a bit about what is Proteus syndrome and how rare and terrible this genetic disorder is...
The renowned "Elephant Man", Joseph Merrick, was believed to be afflicted by Proteus Syndrome (PS). The syndrome causes several abnormal tumours in different parts of the body, partial gigantism, unusual bone development and skin overgrowth. The effects of PS vary with every individual. Some suffer from the mild form of PS while others endure the more severe form.
Tracking the down the true prevalence of the syndrome is difficult because it is very rare and variable. It had been estimated that PS affects 1 out of 1 million people. There had been more than 50 cases reported across the globe. Studies showed that the syndrome affects both male and female with the absence of genetic predisposition - which means it is not inherited. The syndrome affects people of any race and nationality.
Proteus Syndrome is a congenital disorder, but the symptoms are not evident at birth. A child can be born without any evident abnormality, but develop the symptoms later on. It was first described in 1979; and in 1983 was named after the polymorphous god in Greek mythology, Proteus, due to the variable symptoms shown by four boys who are not related to each other.
This disease exists because of the mutation in AKT1 gene.
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