AEC: Searching for answers to genetic skin disease

By Graciela Gutierrez

Four years ago, Alanna Bree, assistant professor of dermatology at Baylor College of Medicine, learned of two babies born with severe skin erosion and open sores on their bodies as a result of a rare genetic disorder. She was troubled that little was known about their condition, ankyloblepharon-ectodermal defects-cleft lip and/or palate, or AEC, syndrome.

Those two newborns died just days after birth. This coupled with her involvement as a dermatology resident in the Skin Erosion and Wound Healing in AEC Workshop at Saint Louis University convinced Bree that something had to be done.

Working to help

She began working with the National Foundation for Ectodermal Dysplasias to help the handful of other children born with the disease go on to live full and meaningful lives with AEC. She eventually wants to prevent future children from suffering and dying without hope.

There is no definitive diagnostic test, and there are no treatments for AEC syndrome. The disease is so rare that it makes it difficult to study. Slightly more than 100 people world-wide have been diagnosed with the problem.

AEC causes the skin to repeatedly erode, leaving behind open, painful sores that can become infected. Other major symptoms at birth include fused eyelids and cleft lip and/or palate. Hearing, dental and growth problems also occur.

"People suffering from this disorder have severe problems with anything forming from the ectoderm," said Bree. "That includes teeth, nails and hair."

Ectoderm is one of the three earliest kinds of tissues in the embryo. As the embryo forms, the ectoderm affects the development of the many layers of skin and similar tissues that make up important organs in the body.

"There is still so much unknown about this disorder," Bree said. "It was only in the past 10 years we learned that the gene p63, which is important in the development of the skin, face and limbs, as well as wound healing, is mutated in this condition."

Collaboration forged

In 2006, Bree led a collaboration among the National Foundation for Ectodermal Dysplasias, Baylor College of Medicine, and Texas Children's Hospital to organize the largest-ever international symposium on ankyloblepharon-ectodermal defects-cleft lip and/or palate syndrome to increase awareness of this disorder. This latest conference was a follow up to one held in St. Louis back in 2003. At that time, organizers realized there were still more questions to be answered that required additional resources. That was the impetus for the 2006 conference in Houston that was supported by the National Institutes of Health.

On Nov. 23, 2006, patients from 14 different states and two countries came to Houston for two days of examinations by doctors, researchers, and clinicians from around the globe specializing in areas such as ophthalmology, otolaryngology, gastroenterology, genetics, plastic surgery, dermatology, dentistry and even psychiatry. Blood, skin and hair samples were taken and are currently being studied.

"We documented everything," Bree said. "We basically just want to learn everything we can."

Sisters with disease

Sisters Virginia Higgins and Denyse Shimchick attended, along with the Shimchick's three children who are all diagnosed with the syndrome.

Higgins and Shimchick were both born with sores on their heads, hands, and feet. Growing up, abrasions on those same areas continued.

"Sometimes I had to have someone write out my homework," Shimchick said. "The pressure of holding a pencil would make my hands bleed."

The symptoms, rather than AEC itself, were treated since most doctors didn't know much about the disorder.

"We tried to keep the skin clean and bandaged," Higgins said. "Above all we tried to keep infection away."

Shimchick said they were in and out of hospitals almost every week. "The doctors were part of our family. We knew them on a first name basis."

While the skin abrasions have lessened with age, other problems have emerged.

"I have joint problems, hearing problems, eye problems – all related to AEC," Shimchick said. "I feel like I'm 50 or 60, and I'm only 29."

Both found support in their families and community to lead full lives. Shimchick is raising a family and dealing with AEC in all three children. Higgins is now a nurse, helping others deal with their own illnesses.

Both are active members of the National Foundation for Ectodermal Dysplasias. They took part in the most recent symposium on the syndrome not only as patients but also as teachers.

"We've found our own ways to help clear up abrasions and sores just through trial and error," Higgins said. "Meetings like this give us a chance to share that with other patients and their families."

They swapped home remedies with other parents and even shared them with doctors.

Physician, scientist interest encouraging

Both sisters said they were encouraged to see so many doctors and researchers at this latest symposium.

"So much still needs to be learned, but what is known is so much more then when we were children," Shimchick said. "We weren't even properly diagnosed until I became pregnant in 1998."

Since the syndrome is often misdiagnosed, any information to make diagnosis easier would be helpful for doctors and patients alike. Lack of treatment is also difficult, and any therapies found to ease some of the symptoms may be useful in other skin conditions too.

"The families were just wonderful in supporting future research," Bree said. "They know it might not impact them, but it was heart warming that they knew that this could affect others and future generations."