Proteus syndrome

Jump to: navigation, search
Proteus syndrome
Joseph Merrick, a famous sufferer of a severe case.
OMIM 176920
DiseasesDB 30070
eMedicine derm/721  ped/1912
MeSH D016715

WikiDoc Resources for Proteus syndrome

Articles

Most recent articles on Proteus syndrome

Most cited articles on Proteus syndrome

Review articles on Proteus syndrome

Articles on Proteus syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Proteus syndrome

Images of Proteus syndrome

Photos of Proteus syndrome

Podcasts & MP3s on Proteus syndrome

Videos on Proteus syndrome

Evidence Based Medicine

Cochrane Collaboration on Proteus syndrome

Bandolier on Proteus syndrome

TRIP on Proteus syndrome

Clinical Trials

Ongoing Trials on Proteus syndrome at Clinical Trials.gov

Trial results on Proteus syndrome

Clinical Trials on Proteus syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Proteus syndrome

NICE Guidance on Proteus syndrome

NHS PRODIGY Guidance

FDA on Proteus syndrome

CDC on Proteus syndrome

Books

Books on Proteus syndrome

News

Proteus syndrome in the news

Be alerted to news on Proteus syndrome

News trends on Proteus syndrome

Commentary

Blogs on Proteus syndrome

Definitions

Definitions of Proteus syndrome

Patient Resources / Community

Patient resources on Proteus syndrome

Discussion groups on Proteus syndrome

Patient Handouts on Proteus syndrome

Directions to Hospitals Treating Proteus syndrome

Risk calculators and risk factors for Proteus syndrome

Healthcare Provider Resources

Symptoms of Proteus syndrome

Causes & Risk Factors for Proteus syndrome

Diagnostic studies for Proteus syndrome

Treatment of Proteus syndrome

Continuing Medical Education (CME)

CME Programs on Proteus syndrome

International

Proteus syndrome en Espanol

Proteus syndrome en Francais

Business

Proteus syndrome in the Marketplace

Patents on Proteus syndrome

Experimental / Informatics

List of terms related to Proteus syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

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,[1] only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently with the condition.[2] 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.[3] 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

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 he was choked by the weight of his head whilst asleep. The disorder affects both sexes equally, and can be found in all ethnicities.

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.

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,[4] while other research points to chromosome 16.[5]

Treatment

While doctors can treat some of the symptoms (by removing tumors, for example), there is no known cure.

Classification

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.Template:Fix/category[citation needed]

References

  1. Cohen MM, Hayden PW (1979). "A newly recognized hamartomatous syndrome". Birth Defects Orig. Artic. Ser. 15 (5B): 291–6. PMID 118782. 
  2. Woman's 11-stone legs may be lost at BBC
  3. Tibbles J, Cohen M (1986). "The Proteus syndrome: the Elephant Man diagnosed.". Br Med J (Clin Res Ed). 293 (6548): 683–5. PMID 3092979. 
  4. Smith JM, Kirk EP, Theodosopoulos G; et al. (2002). "Germline mutation of the tumour suppressor PTEN in Proteus syndrome". J. Med. Genet. 39 (12): 937–40. PMID 12471211. 
  5. Cardoso MT, de Carvalho TB, Casulari LA, Ferrari I (2003). "Proteus syndrome and somatic mosaicism of the chromosome 16". Panminerva medica. 45 (4): 267–71. PMID 15206168. 
  • 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. PMID 10360391. 
  • Jamis-Dow C, Turner J, Biesecker L, Choyke P. "Radiologic manifestations of Proteus syndrome.". Radiographics. 24 (4): 1051–68. PMID 15256628. doi:10.1148/rg.244035726. 

External links

ca:Síndrome de Proteus de:Proteus-Syndrom id:Sindrom Proteus it:Sindrome di Proteo fi:Proteus-syndrooma sv:Proteus syndrom



Linked-in.jpg