Proteus syndrome and risks with “Proteus syndrome” disorder

“Proteus syndrome” is a progressive condition, wherein children are usually born without any obvious deformities. Proteus syndrome is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body.

There is a risk of premature death in Proteus syndrome affected individuals due to deep vein thrombosis and pulmonary embolism caused by the vessel malformations that are associated with “Proteus syndrome” disorder.

Since Dr. Michael Cohen identified it in 1979, 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 with obvious manifestations who are most readily diagnosed are also, unfortunately, the most severely disfigured.

Many sources classify Proteus syndrome to be a type of nervus syndrome. Due to the mosaic distribution of lesions, it is hypothesized (but not confirmed) that the disorder is an example of genetic mosaicism.

While doctors cannot treat Proteus Syndrome, research into the causes of the condition is ongoing in the UK, supported by the Medical Board of the Proteus Family Network UK.