Proteus syndrome

Common Name(s)

Proteus syndrome

Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells.  This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Proteus syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Proteus syndrome" returned 32 free, full-text research articles on human participants. First 3 results:

Proteus syndrome: case report.
 

Author(s): Letícia Silva Sene, Polyane de Oliveira Sales, Rubens Chojniak

Journal: Rev Assoc Med Bras. ;59(4):318-20.

 

Last Updated: 9 Aug 2013

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First Isolation of carbon dioxide-dependent Proteus mirabilis from an uncomplicated cystitis patient with Sjögren's syndrome.
 

Author(s): Kozue Oana, Michiko Yamaguchi, Mika Nagata, Kei-Ichi Washino, Takayuki Akahane, Yu-Uki Takamatsu, Chie Tsutsui, Takehisa Matsumoto, Yoshiyuki Kawakami

Journal: Jpn. J. Infect. Dis.. 2013 ;66(3):241-4.

 

An uncomplicated cystitis caused by CO2-dependent Proteus mirabilis was observed in a 64-year-old Japanese female patient with Sjögren's syndrome in the Aomori Kyoritsu Hospital, Aomori, Japan. The initial P. mirabilis isolate came from a midstream urine specimen containing large ...

Last Updated: 23 May 2013

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Proteus syndrome: a case report with bone scintigraphy findings.
 

Author(s): Bangkim Chandra Khangembam, Sellam Karunanithi, Punit Sharma, Krishan Kant Agarwal, Abhinav Singhal, Varun Singh Dhull, Chandrasekhar Bal, Rakesh Kumar

Journal: Diagn Interv Radiol. ;19(3):240-3.

 

Proteus syndrome is an extremely rare genetic disorder characterized by an asymmetrical overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. We present a case of a six-year-old boy with proteus syndrome who underwent bone scintigraphy for suspected osteomyelitis. ...

Last Updated: 1 May 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Proteus syndrome" returned 5 free, full-text review articles on human participants. First 3 results:

The challenges of Proteus syndrome: diagnosis and management.
 

Author(s): Leslie Biesecker

Journal: Eur. J. Hum. Genet.. 2006 Nov;14(11):1151-7.

 

Proteus syndrome (PS) is a disorder of patchy or mosaic postnatal overgrowth of unknown etiology. The onset of overgrowth typically occurs in infancy and can involve any tissue of the body. Commonly involved tissues include connective tissue and bone, skin, central nervous system, ...

Last Updated: 26 Oct 2006

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Proteus syndrome: a natural clinical course of Proteus syndrome.
 

Author(s): John A Linton, Byeong-Kwon Seo, Choong-San Oh

Journal: Yonsei Med. J.. 2002 Apr;43(2):259-66.

 

A 16-year-old Korean male patient presented with macrodactyly, hemihypertrophy of the face and extremities, plantar cerebriform hyperplasia, a subcutaneous mass of the left chest, macrocephaly and verrucous epidermal nevi. These findings are consistent with Proteus Syndrome. The clinical ...

Last Updated: 23 Apr 2002

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Genital tract tumors in Proteus syndrome: report of a case of bilateral paraovarian endometrioid cystic tumors of borderline malignancy and review of the literature.
 

Author(s): Rajeeva R Raju, William R Hart, David K Magnuson, Janet R Reid, Douglas G Rogers

Journal: Mod. Pathol.. 2002 Feb;15(2):172-80.

 

Proteus syndrome is a rare, sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. Characteristic manifestations include: overgrowth and hypertrophy of limbs and digits, connective tissue nevus, epidermal nevus and hyperostoses. Various benign ...

Last Updated: 18 Feb 2002

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Proteus Syndrome and Related Congenital Disorders
 

Status: Recruiting

Condition Summary: Growth Disorder; Mental Retardation; Multiple Abnormalies

 

Last Updated: 14 Mar 2014

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