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.

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
  • https://selly.gg/@brandon122

Pathophysiology

• Genes involved in the pathogenesis of proteus syndrome include: Mutations in the PTEN gene leads to oncogenesis
• Phosphatase and tensin homolog (PTEN) gene plays an important role in the following:
  • 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

• The most common cause of proteus syndrome is a mutation which has mosaic variant in a gene called AKT1.

Case Studies

Case #1