What is Proteus Syndrome?
Proteus Syndrome is condition which involves atypical growth of the bones, skin, head, and a variety of other symptoms. This condition was first identified by Michael Cohen, Jr., DMD, Ph.D., in 1979. In 1983, a German pediatrician, Has Rudolf Wiedemann, named it Proteus Syndrome, for the Greek God Proteus “the polymorphous” presumably because of the variable manifestations in the four unrelated boys first identified with the syndrome. At this time, it is unknown how many individuals have Proteus Syndrome, since not all individuals are reported in the medical literature. However, there are over 50 reported cases worldwide. Reported cases have been isolated occurrences in families, suggesting that the condition is not hereditary. It affects both sexes equally, and has no particular racial, geographical or ethnic distribution. Proteus Syndrome is an extremely variable condition. The severity of the syndrome ranges from mild cases to severe. There is, as yet, no way to detect who will have
Proteus syndrome is an extremely rare genetic disorder that is characterised by the abnormal growth of bones and blood vessels, and various skin lesions including lipomas, epidermal naevi and café au lait macules. The gene involved has yet to be identified but the mutation to the gene leading to this syndrome is thought to occur soon after conception. However, the condition is usually not evident until late infancy or early childhood when signs and symptoms start to appear.
Proteus Syndrome is an extremely rare congenital condition which causes abnormal growth of skin, bone, and fatty tissue. It is estimated that less than 200 people worldwide are alive at any given time with this condition, although it is possible that additional cases are not diagnosed because the symptoms are too mild. This condition is believed to be a type of genetic mosaicism, a condition caused by the development of abnormalities in some of the cells of the body, and this explains why Proteus Syndrome is unique to each patient, presenting in a wide variety of ways. One famous sufferer of Proteus Syndrome was Joseph Merrick, also known as the Elephant Man. His case of the condition was extremely severe, and it manifested in the form of twisted, gnarled bones, outgrowths of skin, and large tumors. Many Proteus Syndrome patients develop tumors associated with the condition, along with circulatory problems related to venous malformations. In some cases, malformation of blood vessels ca
