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Video: Tot sheds skin daily in battle with rare disorder

  1. Closed captioning of: Tot sheds skin daily in battle with rare disorder

    >>> our special series "curious medicine." this morning, the 5-year-old girl who suffers from an extremely rare condition that causes her to constantly shed her skin. nbc's michelle kaczynski has details.

    >> it's mine.

    >> reporter: spend a day with annabelle .

    >> who is that going to be?

    >> reporter: it's hard to keep up with this sweet, chatty 5-year-old. but everything stops when it's treatment time. thick creams rubbed on to her skin several times a day, on her hands and face every half hour. it's hard for annabelle . plus, the endless questions from strangers.

    >> one taxi driver asked me if i put her in a microwave oven. so a little insensitive.

    >> reporter: now annabelle can pronounce what she's dealing with.

    >> ichthyosis .

    >> reporter: ichthyosis , a genetic skin condition that only affects about 3 in 1 million people. as a newborn, annabelle 's doctors had to carefully remove a thick skin membrane that covered her entire body. whereas most of us shed a layer of skin every two weeks, annabelle 's skin regenerates once a day. if her parents didn't exfoliate her morning and night, apply the lotions and the bandage garmmentes, her skin would thicken and harden like scales from head to toe . it still happens sometimes. annabelle saved us one of these scales to show us.

    >> it's like snake skin that sheds. and comes off.

    >> reporter: initially annabelle had a hard time at school. but once her mom explained to the other kids what was going on, annabelle could be the friendly, popular little girl she is. though now she's asking those tough questions. why?

    >> the hardest thing to deal with is when does annabelle come out and say, i wish i didn't have skin like that. to me as a mother, that's like a knife through my heart. i wish i could take it away from her. unfortunately, i can't.

    >> reporter: ichthyosis is so rare, medical experts say there's not much funding for research to find that gene and potentially a cure. her parents now lead a support group with a website that connects people around the world. for annabelle , it's a constant battle with her own skin, but at age 5, she's learning to live her life around it.

    >> i swam five meters.

    >> reporter: for "today," mizell michelle kaczynski.

TODAY.com
updated 2/3/2011 2:03:12 PM ET 2011-02-03T19:03:12

Five-year-old Annabelle Whitehouse was born with skin that's red, dry and scaly — and every day, she sheds every piece of it.

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"It's like snakeskin, that sheds and comes off," her mother, Sonia Whitehouse, told TODAY. The Whitehouses live in an English town called Sutton Coldfield.

Annabelle has a condition called ichthyosis, a term that gets its name from the Greek word for fish — a reference to the scaly look and feel that the genetic skin disorder causes. Annabelle's skin would thicken and harden — like scales — from head to toe, if her parents didn't exfoliate her every night and apply thick creams and special bandages onto her skin several times a day. Her hands and face require a new coat of lotion every half hour.

Most of us shed a layer of skin every two weeks, but Annabelle loses a layer once a day. Her red, constantly shedding skin means Annabelle has to deal with stares and rude questions from strangers. Her mother remembers a taxi driver who once "asked me if I put her in the microwave oven. So, a little insensitive."

Find more information at the First Skin Foundation

In the U.S., ichthyosis affects about 1 in 200,000 to 300,000 people, according to government statistics. Unlike Annabelle, some with the disorder have eyelids and lips that turn outward, and extra thick skin on their palms and the soles of their feet. In most cases, it's caused by mutations in one of at least three genes — but for some people with ichthyosis, the cause is unknown. There is no cure, and researchers continue to hunt for more genes that are associated with the condition.

Annabelle's ichthyosis is inherited, the British Birmingham Mail reported, as both her mother and father were carriers of one of the mutated genes that causes the condition. When their daughter was born, her skin was encased in a thick, clear membrane that doctors had to remove, a phenomenon that happens in some infants with ichthyosis.

The little girl has had some tough times at school, but things got easier once her mother explained the condition that made her daughter look so different. Today, Annabelle is a sweet, chatty girl, who's popular with the other kids at school.

"The hardest part to deal with is when Annabelle does come out and say, 'I wish I didn't have skin like that,'" Sonia Whitehouse tells TODAY. "To me, as a mother, that's like a knife through my heart. And I wish I could take it away from her, and, unfortunately, I can't."

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