Proteus syndrome: Difference between revisions
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** [[Lhermitte-Duclos disease]] | ** [[Lhermitte-Duclos disease]] | ||
** [[Autism spectrum disorder|Autism spectrum disorders]] | ** [[Autism spectrum disorder|Autism spectrum disorders]] | ||
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==[[Proteus syndromepathophysiology|Pathophysiology]]== | ==[[Proteus syndromepathophysiology|Pathophysiology]]== | ||
Revision as of 13:26, 29 March 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Synonyms and keywords:PS
Overview
Proteus syndrome is an exceedingly rare disorder which falls under the category of hamartomatous disorder. Proteus syndrome is a very complex disorder which involves multiple organ systems in the body.
Historical Perspective
Discovery
- Proteus syndrome was first discovered by Frederick Treves, a British surgeon, in 1884.
- Frederick Treves showed the proteus syndrome on Joseph Merrick, who used to be called as the famous Elephant Man, to the Pathological Society of London.
Classification
- Proteus syndrome is one of the syndromes which falls under PTEN hamartoma tumor syndromes (PHTS). PHTS are due to germline mutations in PTEN gene. [1]
- PTEN hamartoma tumor syndromes (PHTS) which include the following:
Pathophysiology
- Genes involved in the pathogenesis of proteus syndrome include: Mutations in the PTEN gene leads to oncogenesis[2]
- Phosphatase and tensin homolog (PTEN) gene plays an important role in the following:[3]
- Phosphoinositide-3-kinase (PI3K)-AKT pathway and
- Rapamycin (mTOR) signaling pathways
- PTEN track backs to 10q23 which encodes and plays a significant role in the following:
- Effects G1 cell cycle arrest and apoptosis
- Cellular proliferation and
- Migration
- Apoptosis
Causes
Differentiating Proteus syndrome from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic study of choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-Ray Findings
Echocardiography and Ultrasound
CT-Scan Findings
MRI Findings
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
References
- ↑ Vikse J, Sæverås MZ, Staal EM, Gøransson LG (March 2019). Tidsskr. Nor. Laegeforen. (in Norwegian). 139 (6). doi:10.4045/tidsskr.18.0677. PMID 30917642. Missing or empty
|title=(help) - ↑ Vikse J, Sæverås MZ, Staal EM, Gøransson LG (March 2019). Tidsskr. Nor. Laegeforen. (in Norwegian). 139 (6). doi:10.4045/tidsskr.18.0677. PMID 30917642. Missing or empty
|title=(help) - ↑ Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Darling TN, Burton-Akright J, Bagheri M, Dombi E, Gruber A, Jarosinski PF, Martin S, Nathan N, Paul SM, Savage RE, Wolters PL, Schwartz B, Widemann BC, Biesecker LG (March 2019). "Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome". Am. J. Hum. Genet. 104 (3): 484–491. doi:10.1016/j.ajhg.2019.01.015. PMID 30803705.