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Proteus Syndrome "Elephant Man Disease"
PROTEUS
SYNDROME
Joseph Merrick
"ELEPHANT MAN DISEASE"
I sometimes think my head is so large because it is so full of dreams.
Joseph Merrick
JOSEPH MERRICK
August 05, 1862-April 11, 1890
- English man who got his name "Elephant Man" at a circus freak show.
- He was treated like an animal until he was discovered by his doctor Sir Frederick Treves.
JOSEPH MERRICK
August 05, 1862-April 11, 1890
Background
Background
- Merrick’s body measurements: head 36 inches round, right wrist 12 inches, and one of his fingers was 5 inches long.
- His body was covered in wart like growths that had an unpleasant odor.
- Bad hip, but overall in good health per Dr. Treves.
- As his deformities worsened he was unable to care for self.
- Merrick died at age 28 from suffocation due to the weight of his own head.
I am not an elephant! I am not an animal! I ...
I am not an elephant! I am not an animal! I am a human being! I... am... a man!
What is Proteus Syndrome?
Proteus syndrome is a rare genetic overgrowth condition which causes differences in the appearance and growth rate of various body parts.The overgrows are typically asymmetric which means it may only affect one part of the body part that it correlates.
What is Proteus Syndrome?
What Causes Proteus Syndrome?
What causes Proteus Syndrome?
Explore all
the ideas!
So Rare
So Rare........
Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature.
Researchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. To make an accurate diagnosis, most doctors and researchers now follow a set of strict guidelines that define the signs and symptoms of Proteus syndrome.
- Proteus syndrome is NOT caused ...
- Proteus syndrome is NOT caused by anything either parent does (or does not) do before or during pregnancy.
- It is not caused by any environmental exposures before or during pregnancy. Researchers at the National Human Genome Institute have recently discovered this rare condition is caused by a mosaic mutation, in a gene called “AKT1” which helps regulate cell growth, division and cell death.
AKT1
Gene Mosaic
AKT1
Gene Mosaic
No two people with Proteus syndrome are affected in exactly the same way.
Medical Problems
Medical Problems
Most common
- Commonly affects the bones and skin.
- Orthopedic problems
- Cosmetic and other skin concerns.
Less common
- Lung problems that needs medical management
- Cognitively, Proteus syndrome patients have normal intelligence and overall good health.
Higher Risk
- “DVT blood clots,” or deep vein thrombosis (which can develop into a pulmonary embolism.
Each patient has different medical issues so it is harder to have concrete medical concerns.
Treatment Plan
Treatment Plan
Each person diagnosed with Proteus syndrome wi...
Each person diagnosed with Proteus syndrome will have different medical treatment plans.
Geneticist, pediatrician (for children) or internist (for adults) normally are the physicians following the patient’s care and collaborate on treatment decisions.
Manifestations that may occur such as skin overgrowths rarely need emergent medical attention.
Depending on the patient’s treatment certain areas of the patient’s body maybe closely monitored over a specific period of time.
All of the following physician’s are also ve...
All of the following physician’s are also very commonly part of a Proteus patient’s care plan.
- Orthopedic surgeon: for their bone problems
- Dermatologist: skin issues
- Physiatrist (rehabilitation medicine doctor)
- Pulmonologist:lung issues
- Physical/occupational therapists: Rehabilitation
- Pedorthist: cares for the person feet and tailors a shoe and other orthotics
- Hematologist: blood issues for an evaluation a few weeks before having surgery so doctors can consider the risk for blood clots and possible ways to reduce the chances for blood clots.
THE END!
VIDEOS
Mission: The Proteus Syndrome Foundati...
Mission: The Proteus Syndrome Foundation has been founded to support and educate familes and professionals, and to raise money for research to find a cure for individuals living with Proteus Syndrome.