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#1
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06-27-2014, 11:46 AM
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Proteus Syndrome Pictures and Related Overgrowth Conditions
Proteus syndrome is a rare condition that causes uneven overgrowth of bones, skin and other tissues. It results from an AKT1 mutation arising randomly in a cell during early development. Some cells carry the mutation and others do not, a pattern called mosaicism. Newborns usually have few or no signs; overgrowth typically appears between 6 and 18 months. The condition affects fewer than 1 in 1 million people worldwide, with only a few hundred affected individuals reported. A characteristic feature is thick, deeply grooved skin, usually on the soles. Blood clots are a serious risk, and pulmonary embolism is a common cause of death. British adult Mandy Sellars has a separate overgrowth condition linked in 2013 to a PIK3CA mutation, not the AKT1 mutation responsible for Proteus syndrome. Her left leg was amputated above the knee after an infection in 2010. Treatment with rapamycin reduced her leg fat by about 9 kilograms over three months.
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#3
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06-27-2014, 03:58 PM
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Re: Proteus Syndrome Pictures and Related Overgrowth Conditions
I know the woman up top....did she ever have her legs amputated, like she was supposed to? I'm surprised people who suffer from such an INCREDIBLE case of Proteus are still alive, you'd think their hearts would give out, considering how hard they would pump to keep blood circulation in those oversized limbs going.
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