Proteus syndrome

Proteus syndrome
File:Elephantman1.jpg
Joseph Merrick, a famous sufferer of a severe case.
OMIM	176920
DiseasesDB	30070
eMedicine	derm/721  ped/1912
MeSH	D016715

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Proteus Syndrome is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors on over half the body.

Proteus Syndrome is extremely rare. 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 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.

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.if u have it u

Presentation

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.

External links

• The Proteus Syndrome Foundation
• The Proteus Syndrome Foundation UK
• Jordan - The Boy with Proteus Syndrome
• Jordan - Boy in a million
• - Woman's 11-stone legs may be lost
• Template:WhoNamedIt