Everything about Proteus Syndrome totally explained
Proteus syndrome 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. There may be many more than this, but those individuals correctly diagnosed usually have the most obvious manifestations of Proteus syndrome, leaving them severely disfigured. Proteus syndrome is named after the Greek sea-god
Proteus, who could change his shape.
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.
Presentation
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 doesn't 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.
Causes
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.
Treatment
While doctors can't treat Proteus Syndrome, research into the causes of the condition is ongoing in the UK, supported by the Medical Board of the Proteus Family Network UK.
Classification
Many sources classify Proteus syndrome to be a type of
nevus syndrome. Due to the mosaic distribution of lesions, it's hypothesized (but not confirmed) that the disorder is an example of genetic
mosaicism.
Further Information
Get more info on 'Proteus Syndrome'.
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