Proteus syndrome
From Wikipedia, the free encyclopedia
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|---|---|---|
| Joseph Merrick | ||
| OMIM | 176920 | |
| DiseasesDB | 30070 | |
| eMedicine | derm/721 ped/1912 | |
| MeSH | C04.445.620 | |
Proteus Syndrome is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors on over half the body.
[edit] Description
Proteus Syndrome is extremely rare. Since Dr. Michael Cohen identified it in 1979, only a few more than 200 cases have been confirmed worldwide. 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.
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.[1] 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 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. 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. The disorder affects both genders equally, and can be found in all ethnicities.
Although the disorder itself does not directly cause learning impairments: the distribution of intelligence among sufferers of Proteus syndrome mirroring that of the general population, 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.
Researchers are still trying to determine the cause(s) of Proteus syndrome. While doctors can treat some of the symptoms (by removing tumors, for example), there is no known cure.
Many sources classify Proteus syndrome to be a type of epidermal nevus syndrome (see external links). Due to the mosaic distribution of lesions, it is hypothesized (but not confirmed) that the disorder is an example of genetic mosaicism.
[edit] References
- ^ Tibbles J, Cohen M (1986). "The Proteus syndrome: the Elephant Man diagnosed.". Br Med J (Clin Res Ed) 293 (6548): 683-5. PMID 3092979.
- Biesecker L, Happle R, Mulliken J, Weksberg R, Graham J, Viljoen D, Cohen M (1999). "Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.". Am J Med Genet 84 (5): 389-95. PMID 10360391.
- Jamis-Dow C, Turner J, Biesecker L, Choyke P. "Radiologic manifestations of Proteus syndrome.". Radiographics 24 (4): 1051-68. PMID 15256628. Full text
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