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Proteus Syndrome

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Rhianna Fitzer

on 20 January 2016

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Transcript of Proteus Syndrome

Do you know of a Disease called Proteus Syndrome?
Why I Chose This Topic
I chose this topic because as I was searching for ideas on the internet, some images appeared of people with this disease and it immediately caught my attention. Seeing these pictures made me curious about what caused it, and how people who had this disease managed to live with it.
What is Proteus Syndrome?
Proteus Syndrome is a rare disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body.

Organs and tissues affected by the disease grow out of proportion to the rest of the body

Only a few more than 200 cases have been confirmed worldwide

And estimates of about 120 people are currently alive with the condition
In people with Proteus syndrome, the pattern of overgrowth varies greatly but can affect almost any part of the body.

Bones in the limbs, skull, and spine are often affected

The condition can also cause a variety of skin growths, particularly a thick, raised, and deeply grooved look known as a cerebriform connective tissue nevus.

This type of skin growth usually occurs on the soles of the feet and is hardly ever seen in conditions other than Proteus syndrome.




How it Affects People
Some people with Proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss.

Affected individuals may also have distinctive facial features such as a long face, outside corners of the eyes that point downward, a low nasal bridge with wide nostrils, and an open-mouth expression.

People with Proteus syndrome include an increased risk of developing various types of noncancerous tumors and a type of blood clot called a deep venous thrombosis

Relation to Biology
Proteus Syndrome is related to Biology because it has to do with genetics. As well as the Human Body System, with things like bone and muscle structure and how this disease affects our body.

Proteus syndrome results from a mutation in the AKT1 gene

This genetic change arises randomly in one cell during the early stages of development before birth

As cells continue to grow and divide, some cells will have the mutation and other cells will not
Tell Me Something I Don't Know
Genes Related to Proteus Syndrome
The AKT1 gene helps regulate cell growth, division and cell death.

A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally.

Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome.

Studies suggest that an AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.
So What?
As some similar forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed.

Those most often diagnosed are also the most severely disfigured.

Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families

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.

Sources
www.proteussyndrome.net
syndrome.org/proteus-syndrome
http://www.proteus-syndrome.org/proteus-syndrome/faqs/
Full transcript