Proteus syndrome
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.[1]
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.
- PTEN hamartoma tumor syndromes (PHTS) which include the following:
Pathophysiology
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
- ↑ Huntley C, Hodder A, Ramachandran M (January 2015). "Clinical and historical aspects of the Elephant Man: exploring the facts and the myths". Gene. 555 (1): 63–5. doi:10.1016/j.gene.2014.09.056. PMID 25280594.