J28 — July 2009 —Scaly Skin

Intro: Imagine being afraid to pick up your child because any pressure on her skin could cause blisters and pain. That's a reality for the little girl you're about to meet. She has a genetic condition called epidermolytic hyperkeratosis. Her skin looks scaly and tough, but it is so sensitive even clothing hurts.

LITTLE KIRSTEN SANFORD HAS NEVER KNOWN WHAT IT IS LIKE TO HAVE NORMAL SKIN.

"IF THE ELASTIC IN THE SOCKS AROUND HER ANKLES IS TOO TIGHT SHE'LL GET A BLISTER. AND YOU CAN'T USE BAND-AIDS ON HER BECAUSE IT'LL PULL HER SKIN RIGHT OFF."

BUT WHEN KIRSTIN STEPS INTO A SWIMMING POOL, SHE CAN FORGET FOR A MOMENT ABOUT HER SKIN. (SPASH)

THE WATER FEELS GOOD ON THE THICK SCALY CRACKS AND BLISTERS CAUSED BY A GENETIC CONDITION CALLED EPIDERMOLYTIC HYPERKERATOSIS. BUT EVEN SWIMMING WITH DAD CAN CAUSE PAIN.

"IT'S HARD TO PICK HER UP WITHOUT HURTING HER."

"EPIDERMOLYTIC HYPREKERATOSIS IS A GENETIC DISORDER OF A KERATIN ABNORMALITY WHICH CAUSES YOUR SKIN CELLS, THE KERATIN PROTEIN, TO BE MORE FRAGILE OR BREAK DOWN."

DR. DAWN DAVIS SAYS KERATIN IS A ROPE-SHAPED PROTEIN THAT MAKES UP KERATINOCYTES, WHICH ARE THE BUILDING BLOCKS OF YOUR SKIN. NORMALLY, THESE BUILDING BLOCKS SHED KERATIN, RENEWING THE SKIN BARRIER EVERY 28 DAYS. BUT PEOPLE WITH EPIDERMOLYTIC HYPERKERATOSIS DON'T SHED KERATIN PROPERLY. THE FAULTY KERATIN STRUCTURE CAUSES SKIN TO BECOME WEAK, AND PRONE TO BLISTERS AND INFECTIONS. SKIN TRIES TO BUILD ITSELF UP, BUT UNSUCCESSFULLY. HER PARENTS FOUND HOPE AT MAYO CLINIC.

"WE'LL TRY TO HELP YOU OUT WITH THAT, OK?"

DR. DAVIS SAYS WITH PROPER TREATMENT — ORAL RETINOLS AND SPECIAL CREAM — KIRSTIN WILL LIKLEY SEE A 90-PERCENT IMPROVEMENT IN THE CONDITION OF HER SKIN.

"I HOPE SHE CAN LIVE AS NORMAL A LIFE AS ANY KID WOULD WANT TO LIVE."

AS YOU CAN SEE NOW FROM THESE PICTURES TAKEN A FEW MONTHS AFTER KIRSTIN STARTED MEDICATION, TREATMENT IS WORKING.

FOR MEDICAL EDGE, I'M VIVIEN WILLIAMS.

Anchor tag: There is no cure for this skin condition. Kirstin will have to take medication for it all of her life. And because it's genetic, she has a 50-percent chance of passing it on to her children. But, it is a condition that can be controlled and Dr. Davis says with treatment Kirstin will have near normal skin.

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