Abstract
Proteus syndrome is a rare condition that can be loosely categorized as a hamartomatous disorder. It is a complex disorder with multisystem involvement and great clinical variability. Once thought to have neurofibromatosis, Joseph Merrick (also known as “the elephant man” and studied by Treves in the 19th century) is now, in retrospect, thought by clinical experts to actually have had Proteus syndrome. This condition is characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi.
Highlights
Proteus syndrome is a rare condition that can be loosely categorized as a hamartomatous disorder
Proteus Syndrome may be life threatening due to abnormal blood clotting and can cause deep vein thrombosis and pulmonary embolism
In some patients with Proteus Syndrome, deep vein thrombosis may progress to blood flow to the lungs and cause pulmonary embolism
Summary
Volume 4 - Issue 3 How to cite this article: Shahin Asadi. The Role of Mutations on Genes AKT1, PTEN, GPC3, PIK3CA, In Proteus Syndrome.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
