Rarest syndrome to inspire a Hollywood blockbuster:
Progeria in “Benjamin Button”


“The Curious Case of Benjamin Button” is notable not just for having the least likely title of a major Hollywood hit since “Forest Gump.”  It also features images you don’t see every day:  Using sophisticated makeup, long segments of the tale show superstar Brad Pitt’s face, aged beyond his years.  He looks so different that a confused Angelina would kick him out of their kids’ nursery.  His wrinkled countenance is then seamlessly computer grafted onto a diminutive body.

 

The flick follows Pitt’s “Button,” born small, but appearing elderly and arthritic, who then spends the remaining screen time becoming physically younger.  While this concept is fantasy, the situation of child who looks geriatric is very rare but very real.


Progeria (also called Hutchinson-Gilford Progeria Syndrome or HGPS) is an extremely rare condition.  There are fewer new cases of this disease each year than people who saw “The Love Guru” during its opening weekend. Due to a genetic problem with cells, children afflicted with HGPS show a rapidly accelerated aging pattern.  The gene change happens sporadically, so the risk is not inherited. Like Pitt in the film, these kids lose their hair and their skin appears wrinkled.  They develop joint stiffness and problems with their blood vessels.  By the time they reach their teen years, most will die of a heart attack or stroke.


Unlike Pitt’s character, their premature aging does not reverse.  Nor due they travel the world in a tugboat or have a personal dance recital by a cgi enhanced Cate Blanchett.  Fortunately, the likely cause of HGPS has been discovered:  A genetically defective cell protein called progerin causes instability of the nucleus of the cell.  The diagnosis can be made by analyzing the DNA of blood and skin biopsy samples. There is also research focused on a medicine which may help to stabilize the protein.  This medicine showed a reversal of the cell damage when tested in animals.  Tests in humans have recently begun.


 

Fixing this condition won’t be as easy as pressing a “Button.” Since this abnormal protein may also play a role in normal aging, someday, the plot of “Benjamin Button” may not be so far fetched.



Runner-up, Rarest syndrome to inspire a Hollywood blockbuster:
Skin darkening procedure in "Tropic Thunder."
Robert Downey Jr. goes to the dark side in "Tropic Thunder"
 
As a method actor playing an African American role, Robert Downey Jr. undergoes a "controversial" skin darkening treatment. Too bad this procedure is fictional. Many genetically light skinned people would be at much less risk of skin cancer with addition of some skin pigmentation.


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© 1996-2009 Vail Reese M.D.

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