Proteus syndrome

Proteus syndrome

Proteus syndrome is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body. Proteus syndrome is named after the Greek sea-god Proteus, who could change his shape.

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.

Notable cases

This extremely rare condition would have remained obscure, were it not for the fact that Joseph Merrick — immortalized as the "Elephant Man" for a look imparted by his large facial tumours and the grayish hue of his overgrown skin — was lately diagnosed as having a particularly severe case of Proteus syndrome rather than, or in addition to, the neurofibromatosis that doctors once thought he had. Oddly, Merrick's left arm and his genitals were entirely unaffected by the condition that grotesquely deformed every other portion of his body.


Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels.

Proteus syndrome is a progressive condition, wherein children are usually born without any obvious deformities. As they age, tumours as well as skin and bone growths appear. The severity and locations of these various asymmetrical growths vary greatly but typically the skull, one or more limbs and soles of the feet will be affected. There is a risk of premature death in affected individuals due to deep vein thrombosis and pulmonary embolism caused by the vessel malformations that are associated with this disorder. Further risks may occur due to the mass of extra tissue - Merrick himself died when the weight of his head dislocated his neck while asleep.

The disorder itself does not directly cause learning impairments: the distribution of intelligence among sufferers of Proteus syndrome mirrors that of the general population. However, the growths may cause secondary damage to the nervous system leading to cognitive disability. In addition, the presence of visible deformity may have a negative effect on the social experiences of the sufferer, causing cognitive and social deficits.

Afflicted individuals are at increased risk for developing certain tumors including unilateral ovarian cystadenomas, testicular tumors, meningiomas and monomorphic adenomas of the parotid gland.


Researchers are still trying to determine the cause(s) of Proteus syndrome. Some research has shown the condition linked to PTEN on chromosome 10, while other research points to chromosome 16.


While no actual cure exists, a team of doctors in Australia have trial tested the drug Rapamycin in the treatment of Proteus Syndrome, and have found it to be an effective remedy.


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


  • Biesecker L, Happle R, Mulliken J, Weksberg R, Graham J, Viljoen D, Cohen M (1999). "Proteus syndrome: differential diagnosis, and patient evaluation". Am J Med Genet 84 (5): 389–95.
  • Jamis-Dow C, Turner J, Biesecker L, Choyke P (2004). "Radiologic manifestations of Proteus syndrome". Radiographics 24 (4): 1051–68.

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