tagged w/ Epidermolysis Bullosa
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A Mother's Plea: Heal my Children's Skin
By Madison Park, CNN
August 12, 2010 1:41 p.m. EDT
Jake Liao had to be bandaged every day to prevent skin wounds and infections.
STORY HIGHLIGHTS
Epidermolysis bullosa is a terminal genetic condition that causes persistent skin problems
Patients lose their skin with the slightest friction because of the lack of a protein
Bone marrow transplant recipients show improvement in collagen levels and skin
PART ONE…
(CNN) –
For years, Theresa Liao heard there were no cures, no treatments, no hope to help her son Jake.
"When he was born, his hands looked like they had been boiled in oil," said his mother. "It looked like someone had taken a potato peeler and skinned him down to muscle."
At the slightest friction, Jake's skin would shed, leaving the newborn wailing in pain. When Jake rubbed his eye, a chunk of his eyelid would come off in his fingers. He was born with recessive dystrophic epidermolysis bullosa, a terminal genetic condition in which persistent skin problems lead to crippling deformities and, eventually, skin cancer.
Liao's crusade led to the first stem cell treatment for epidermolysis bullosa, also known as EB.
New research findings, published in The New England Journal of Medicine this week, show that bone marrow transplants can help repair wounds and regenerate skin in EB patients. Doctors say it's an important step in stem cell science.
"I'm not saying this is a cure," said co-author Dr. Jakub Tolar, an associate professor of pediatrics at the University of Minnesota. "This is a critical step on the road to make this a disease of the past."
EB patients lack a protein called collagen 7 that acts as a Velcro, hooking the layers of skin -- the epidermis and the dermis -- together.
The transplanted bone marrow contains stem cells that can turn into skin cells. These new skin cells could produce the missing collagen 7 to stitch the skin layers, gradually healing the blisters and improving the patient's condition.
The transplant appears to be effective, but doctors don't know exactly what type of stem cells are responsible for the change.
EB patients have often been called butterfly children, because their skin is so sensitive. They have also been likened to permanent second-degree burn victims.
The graze of a diaper can sheer off skin from their waist and inner thigh. Putting T-shirts over their heads can cut skin off their ears. In severe cases, children live in the bondage of bandages, like little mummies, to protect their fragile skin from wounds and infections.
The constant inflammation and blisters can fuse fingers and toes, creating a webbed look. EB also irritates the lining of the esophagus, so that many children with the condition get stomach feeding tubes.
The Netherlands allows for euthanasia for patients of this rare condition. The ones who survive to their 20s usually succumb to skin cancer.
EB patients require daily bandage changes to protect their skin in an intensive process that takes about four hours. Liao likened it to "controlled torture."
For years, Liao, of Princeton, New Jersey, scoured the Web, and called companies, dermatologists, hematologists and nurses until one doctor mentioned that perhaps a stem cell treatment could reboot Jake's entire body to help him produce the missing collagen.
Liao pounced after learning that Dr. John Wagner, director of pediatric blood and marrow transplantation and clinical director of the Stem Cell Institute at the University of Minnesota, would be in New York for a meeting in 2004. He had a long track record of working on stem cell and cord blood issues.
Liao approached Wagner with her then-2-year-old Jake in her arms. Jake had thrown up parts of his esophagus a few days before, and was still moaning in pain.
"She held him up in front of me and said, 'Please, save my child,' " Wagner recalled.
The pediatrician was horrified.
CONTINUED…A Mother's Plea: Heal my Children's Skin
By Madison Park, CNN
August... more
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Courteney Cox and David Arquette have a challenge for their famous friends: help raise $1 million in two weeks for Epidermolysis Bullosa, a rare skin condition that primarily affects children.
"EB is very personal to me so I'm happy to be a part of this $1 million challenge," Cox said in a statement to The Associated Press. "Now is such an important time to put the spotlight on EB and ensure that research can continue at a fast pace."
Courteney Cox and David Arquette have a challenge for their famous friends: help raise... more
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