Proteus syndrome: Difference between revisions

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* Proteus syndrome is one of the syndromes which falls under PTEN hamartoma tumor syndromes (PHTS). PHTS are due to germline mutations in PTEN gene.
* 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:
* PTEN hamartoma tumor syndromes (PHTS) which include the following:
** Proteus syndrome
** Cowden syndrome
** Cowden syndrome
** Bannayan-Riley-Ruvalcaba syndrome
** Bannayan-Riley-Ruvalcaba syndrome
** Lhermitte-Duclos disease
** Lhermitte-Duclos disease
** Autism spectrum disorders
**  
**  



Revision as of 13:57, 27 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.
  • PTEN hamartoma tumor syndromes (PHTS) which include the following:
    • Proteus syndrome
    • Cowden syndrome
    • Bannayan-Riley-Ruvalcaba syndrome
    • Lhermitte-Duclos disease
    • Autism spectrum disorders

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

Case #1