Brody Curtis has a big smile across his face, about the only part of his little body that is not swaddled in thick bandages. The one-month-old was born with epidermolysis bullosa, which means he is missing skin on much of his body and what skin he does have is fragile and can easily erode.
"He looked like he had third degree burns," said his mother, Heather Curtis, a 33-year-old high school math teacher from Charlestown, Ind. "The doctors could almost see his veins."
Bandages cover Brody's arms from his elbows to his fingers and from his knees to his feet, as well as around his skull. It takes the Curtises about an hour to change the dressing and apply a salve, which they must do each day to prevent a life-threatening infection.
Epidermolysis bullosa is a spectrum of inherited skin disorders whose hallmark are a blistering response to minor injuries, heat or even rubbing or scratching, according to the Mayo Clinic.
Brody has the recessive dystrophic form of the disease. In addition to his fragile skin, he has blisters inside his mouth and on his tongue, which is typical in patients with the disease.
Epidermolysis bullosa or EB strikes about 1 in 20,000 children and there are about 30,000 cases nationwide, half a million globally. Brody's condition occurs in one in about a million children, according to Curtis.
Brody's doctors don't know if his skin will ever grow back, but they hold out hope that one day he could lead a normal life.
"We do know that different forms can cause early death in life and it can cause skin cancer," said his mother. "Some people go on to be blind or have deformities in their bodies."
"But we just don't know," she said.
Heather and her husband Chuck, both healthy, are carriers of the genes that cause the disease. Their daughter Mckenna, 5, is also disease free.
Couples who carry the gene for the disease have a 25 percent chance of passing it on to their children.
"EB group disorders are tremendously variable in their severity," said Dr. Jouni Uitto, chair of the department of dermatology and cutaneous biology at Thomas Jefferson University in Philadelphia.
Twenty years ago, Uitto was one of the first doctors to describe Bart's syndrome -- one of the variant's of EB, identifying mutations in the gene that causes the variant of EB. About 15 genes in various combinations are associated with the EB spectrum.
"In the most severe forms, children can die a couple of days or weeks after birth," Uitto said. "The skin is not functioning. Or they have infections and eventually develop malnutrition and some form aggressive squamous cell cancer."
Blisters can appear not only on the skin but can scar the mucous membranes of the mouth and the esophagus. Kidney and urinary tract infections are also associated with EB.
"At the milder end, there is an increase in the tendency to get blisters and erosions on their hands and feet when they have trauma," he said.
There is no effective treatment, other than bandages to avoid trauma and infections. New molecular approaches are being developed including bone marrow transfers and fibroplast injections, according to Uitto.
Prenatal testing is available to couples before conception for families at risk.
Brody's parents had no idea they were carriers of the disease. Heather Curtis said she had a normal pregnancy and the baby was a seemingly healthy six pounds, 13 ounces.
But the doctors knew almost immediately, noticing skin missing on the baby's arms, legs and head.
Epidermolysis Bullosa: Hope for a Normal Life
"When he came out my husband saw him and he didn't know anything was wrong," Curtis said. "But the doctor knew something wasn't right and took him to the warmer and started cleaning him up instead of putting him on my chest."
Brody was flown to a children's hospital in neighboring Kentucky, where he was diagnosed with ED and stayed for 27 days. Soon, he will go to Cincinnati Children's Hospital, which has a special EB clinic, for further tests.
"He doesn't show any pain until we do the bandage changes," Curtis said. "And he's gotten a lot better. All of his appendages are healed pretty good, except for his left leg. The skin is growing back and it scabs over and is not like an open wound anymore."
For now, the parents are guardedly optimistic.
"We hope he'll be one of the lucky ones and still be active and play sports and grow up to be a normal kid," Curtis said.