Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic manifestations.Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition. As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed. Those most readily diagnosed are also the most severely disfigured. The syndrome is named after the Greek sea-god Proteus, who could change his shape. The condition appears to have been first described in the American medical literature by Samia Temtamy and John Rogers in 1976. American pathologist Michael Cohen described it in 1979. Signs and symptoms
Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. Tumors of skin and bone growths appear as they age typically in early childhood. The musculoskeletal manifestations are cardinal for the diagnosis of Proteus syndrome. The severity and locations of these various asymmetrical growths vary greatly but typically the skull, one or more limbs, and soles of the feet will be affected.
This trial is based on in vitro data showing inhibition of AKT1 in cell lines from patients with Proteus syndrome. Notable cases
In a 1986 article in the British Medical Journal, Michael Cohen and J.A.R. Tibbles put forward the theory that Joseph Merrick (an Englishman known as the "Elephant Man") had had Proteus syndrome. However, the exact condition had by Joseph Merrick is still not known with certainty.Mandy Sellars has been diagnosed by some doctors as having this condition. Her legs and feet have grown at a disproportionate rate since birth. However, in 2013, Sellars case was 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 the often-misdiagnosed PIK3CA-related overgrowth spectrum, a syndrome caused by a PIK3CA gene mutation. See also
Epidermal nevus syndrome
Mosaic (genetics)
Overgrowth syndrome
List of radiographic findings associated with cutaneous conditions

References
External links

GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS)