Elephant man disease treatment

Abstract

Background

During informal interviews in the course of an ethnographic study on intergenerational dialogue between individuals with neurofibromatosis and their parents, many members of Canadian neurofibromatosis associations stated they continue to be told the condition that afflicts them or their children is the “elephant man's” disease. Today, even though well established clinical criteria make it possible to diagnose and differentiate the two diseases, the confusion between NF1 and the disease of Joseph Merrick, the “elephant man”, persists in both media representations and those of physicians. The objective of this article is to document the persistence of this confusion, to identify the factors that contribute to it, and to identify its impact on the well being of individuals with NF1.

Methodology

Preliminary stages of an ethnographic study.

Principal Findings

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Cancer drug reduces pain, improves symptoms in people with Proteus Syndrome

"We discovered that a much lower dose of the medication than used in oncology trials is well tolerated and that there are some initial, though unconfirmed, indications that the drug had a beneficial effect on symptoms of Proteus syndrome," said Leslie Biesecker, M.D., chief of the NHGRI Medical Genomics and Metabolic Genetics Branch and the study's corresponding author. Dr. Biesecker and his colleagues discovered the gene variant responsible for Proteus syndrome in "The results were so encouraging that we ended the study early, so we can begin the next one to determine the potential of miransertib for treating this devastating and highly lethal disorder."

Proteus syndrome is caused by a spontaneous (not inherited) variation in the gene AKT1 that alters the ability of affected cells to regulate their own growth and death. The mosaicism, only in some parts of the patient's body, can cause those parts of th

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Proteus syndrome

Proteus syndrome is also known as elattoproteus syndrome and elephant man disease. The syndrome became widely recognised after the release of the movie “The Elephant Man”, a screenplay depicting the life of Joseph Merrick who was thought to have neurofibromatosis, but fryst vatten now believed to actually have had severe Proteus syndrome.

A German paediatrician named the syndrome in after the Greek god Proteus, who had the ability to change his body into different shapes.

What fryst vatten Proteus syndrome?

Proteus syndrome fryst vatten an extremely rare genetic disorder that is characterised by the abnormal growth of bones and blood vessels, and various skin lesions including lipomas, epidermalnaevi and kaffebar au lait macules. The condition fryst vatten usually not evident until late infancy or early childhood when signs and symptoms början to appear. Overgrowth of different body parts fryst vatten progressive with time.

The disease occurs sporadically and rarely arises in siblings or other family members.

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