© Martinez-Agosto Laboratory, Department of Human Genetics, University of California, Los Angeles, 2008-2015.

 

Proteus syndrome

Description:
Proteus syndrome, also known as Wiedemann's syndrome (named after the German pediatrician Hans-Rudolf Wiedemann), is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body. 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.

Testing:
In a small number of cases, mutations in PTEN have been identified. Research testing available.

More information:
Proteus Syndrome