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 43 free, full-text research articles on human participants. First 3 results:

Fronto-temporal cerebriform connective tissue nevus in Proteus syndrome.
 

Author(s): S M Balaji

Journal: Indian J Dent Res. ;25(6):828-31.

 

Proteus syndrome is one of the very rare syndromes with occurrence of cerebriform connective tissue nevus. The aim of the present manuscript was to present a case of Proteus syndrome in an unusual facial location, which to the best of our knowledge, is being reported for the first ...

Last Updated: 2 Mar 2015

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Proteus Syndrome: a difficult diagnosis and management plan.
 

Author(s): M D Popescu, G Burnei, L Draghici, I Draghici

Journal: J Med Life. ;7(4):563-6.

 

Proteus Syndrome (PS) is an extremely rare congenital pathology that causes overgrowth of multiple tissues, in particular bone and fat, following a mosaic pattern. The estimated incidence is of less than 1 per 1,000.000 live births and represents a significant challenge to the pediatric ...

Last Updated: 25 Feb 2015

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Thoracolumbar scoliosis in a patient with Proteus syndrome: a case report and literature review.
 

Author(s): Zheng Li, Jianxiong Shen, Jinqian Liang

Journal: Medicine (Baltimore). 2015 Feb;94(5):e360.

 

The Proteus syndrome (PS) is a complex and rare congenital hamartomatous condition with a wide range of malformations. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of PS and explores the possible ...

Last Updated: 6 Feb 2015

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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 7 free, full-text review articles on human participants. First 3 results:

Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2015 Feb;19(103):109-16.

 

Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting ...

Last Updated: 1 Mar 2015

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome
 

Status: Recruiting

Condition Summary: Proteus Syndrome

 

Last Updated: 13 Nov 2015

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Study of Proteus Syndrome and Related Congenital Disorders
 

Status: Recruiting

Condition Summary: Growth Disorder; Mental Retardation; Multiple Abnormalies

 

Last Updated: 18 Sep 2015

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