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

Case Studies

Case #1