Proteus syndrome

Last reviewed 01/2018

The term "Proteus Syndrome" is applied to an extremely variable condition involving atypical growth of the skin, skull and bones associated with a variety of other symptoms. It has been suggested that Joseph Merrick (known as the Elephant Man) had suffered from this condition rather than neurofibromatosis, as was initially suggested

This condition was first identified by Michael Cohen, Jr., in 1979 and in 1983, a German pediatrician, Has Rudolf Wiedemann, named it Proteus Syndrome, after the Greek God Proteus "the polymorphous"  because of the variable manifestations in the four unrelated boys first identified with the syndrome.

The condition is extremely rare but there are over 50 reported cases worldwide. Cases have been isolated occurrences in families, suggesting that the condition is not genetic. It affects both sexes equally, and has no particular racial, geographical or ethnic distribution.