Definition of Proteus Syndrome
Proteus Syndrome is a condition which involves atypical growth of the bones, skin, head and a variety of other symptoms. This conditon was first identified by Michael Cohen Jr., DMD, PhD., in 1979. In 1983 a German Pediatrician, Hans-Rudolf Wiedemann, named it proteus syndrome, for the Greek God Proteus “the polymorphous” presumably because of the variable manifestation in the four unrelated boys first identified with the syndrome. At this time there are over 120 documented cases worldwide. However, not all cases of proteus syndrome are documented, therefore it is unknown how many individuals have this syndrome. The syndrome became widely known when it was determined that Joseph Merrick(the patient depicted in the play and movie "The Elephant Man") had severe Proteus syndrome rather than neurofibromatosis as was initially suggested.
Symptoms of Proteus Syndrome
# Overgrowth, asymmetry, and gigantism of the limbs
# Increased size of an organ, or the body, or bones (hypertrophy)
# Raised rough Skin (verrucous epidermal naevi)
# Deep lines and overgrowth of soft tissue on the soles of the feet (cerebriform connective tissue nevus)
# Patches of overgrown blood or lymphatic vessels (vascular malformations)
# Local overgrowth of fat (lipomas) or undergrowth of fat
# Various tumors are more common in patients with Proteus syndrome, but most are benign
# Deep venous thromboses (blood clots) and the lodging of these blood clots in the lungs (This can be life threatening)
Current Diagnostic Criteria for Proteus Syndrome
Biesecker, L., Happle, R., Mulliken, J., Weksberg, R., Graham Jr, J., Viljoen, D., Cohen Jr, M. (1999) Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation American Journal of Medical Genetics, 84, 389-395
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