#What is proteus skin#

The Hitler that they seek to advise soon develops other plans. This 'Uptime' initiative sends 21st century advisors, armament, and nuclear weapons to support Adolf Hitler. They regard the Nazis as the perfect tool for destroying the Soviet Union and establishing an elitist tyranny with which they can live the lives of luxury and entitlement they believe have been stolen from them. Their scheme is to go back as far as they can (roughly a century, to the very early 1920s) and mentor the fledgling Nazi Party. This group come up with a plan to build a functional 'time machine' and change history for their benefit. Many in the modern aristocracy, corporate dynasties, and others feel they have lost out because of the social transformations enabled by decades of peace and co-operation. The fledgling Nazi Party, in this 'original' timeline, simply faded out after the 1923 Beer Hall Putsch. By the 2020s, a global League of Nations oversees a planet totally at peace. Are you affected by PS? Do you know somebody who is? Join the worldвЂ™s biggest community of rare disease patients and connect with people like you.Originally, the First World War was a complete wake-up call for the human race, leading to greater internationalism and a 'Never Again' spirit towards war that would eventually wear away the differences between the various power-blocs. Share4Rare would like to connect patients with Proteus syndrome in order to enhance new research projects. Boosting research in this overgrowth syndrome will ultimately improve the lives of the people and families affected. Diagnosis is difficult and controversial and it can lead to acute disabilities. Proteus syndrome (PS) can be a challenging and severe rare disorder. Studies show that Miransertib achieves a 50% decrease in phosphorylated AKT and non- phosphorylated AKT. Proteus syndrome is one of the diseases that arise from mutations in AKT so this new therapy would be more specific and effective than classic PI3K inhibitors. New treatments ( antibodies) are now targeting AKT: Miransertib (ARQ 092), which suppresses AKT by inhibiting the active and inactive form of AKT, is very useful for patients with overgrowth and/or vascular anomalies with genetic alterations in AKT. Inhibitors bind to the PI3K protein and do not allow its phosphorylation, so the protein does not adopt an active form. Treatment Proteus consists in blocking the PI3K/AKT pathway using PI3K inhibitors to stop the pathway at the very top. These genetic disorders are not inherited so they do not run in the familyвЂ™s genes. However, these patients do not meet the strict guidelines for the diagnosis of this syndrome.

Mutations in another gene named PTEN, which is responsible for the synthesis of the PTEN protein, has also been associated to Proteus syndrome.

#What is proteus skin#

These mutations are more common in cell groups that have a high rate of proliferation (such as skin or blood cells), rather than tissues that have a normal rate of growth or that do not proliferate at all, like neurons or cardiomyocytes. Mutations make the cell grow and divide abnormally. AKT1 regulates cell growth, cell division and cell death. It is not inherited and arises randomly ( de novo) in one cell during the early stages of development before birth. Associated genetic defects in Proteus syndromeДЄs mentioned above, Proteus syndrome is the result of a mutation in the AKT1 gene.

Proteus syndrome tends to be over-diagnosed. It is especially important to apply a differential diagnosis with other diseases that can be confused with overgrowth symptoms, because clinically they are very difficult to distinguish. In fact, it is a common cause of death within people with Proteus syndrome. Pieces of these blood clots can travel through the bloodstream directly into the heart and to the lungs, where they can get stuck and cause a pulmonary embolism, which is a life-threatening condition. DVT are blood clots that are formed because of a slow blood flow into the deep veins of the legs and arms. Potential complications in Proteus syndrome are the development of benign tumors (in any tissue) and deep venous thrombosis (DVT). Affectation of the blood vessels is the origin of vascular tumors in Proteus syndrome.

Blood vessels can also be affected by overgrowth.

Evaluation of the progression of skin lesions in these patients is done by CCTN score and growth rate. The most prevalent is CCTN (Cerebriform connective tissue nevus), which is a thick, raised and deeply grooved lesion that usually occurs on the soles of the feet.

Skin can show a variety of overgrowths.

Limbs, skull and spine are the ones mostly affected.

Bones are the most apparent affectations because of their abnormal overgrowth.

Join our community and share your knowledge to advance research Main affectations in Proteus syndrome