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3 unusual facts about Proteus syndrome


Lipomatosis

Other entities which are accompanied by multiple lipomas include Proteus syndrome, Cowden syndrome and related disorders due to PTEN gene mutations, benign symmetric lipomatosis (Madelung disease), familial lipodystrophy, hibernomas, and familial angiolipomatosis.

Proteus syndrome

Mandy Sellars has been diagnosed by some doctors as suffering from this condition.

In 26 of 29 patients who met strict clinical criteria for the disorder Lindhurst et al. identified an activating mutation in AKT1 kinase in a mosaic state gene.



see also

Mandy Sellars

In 2013, Sellars' case was again profiled on British television in a special called Shrinking My 17 Stone Legs, in which it was determined that Sellars' condition was not, in fact, Proteus syndrome, but rather a PIK3CA gene mutation.

The most famous person with Proteus syndrome may be Joseph Merrick, the "Elephant Man".