Article from "The Daily Herald"

Rare skin disease makes doctor's job even trickier by Lorilyn Rackl Daily Herald Health Writer Posted on Monday, September 24, 2001

The little girl's esophagus was closed to the point where she was no longer able to swallow. The reason for her predicament: epidermolysis bullosa, a rare, inherited skin condition that leaves people prone to blisters. The severity of the disorder varies widely. Some people might only develop blisters on their feet in hot weather. Others have extremely fragile skin all over their bodies. Even the most minor trauma to the skin can result in painful blisters, open sores and sometimes disfiguring scars and death. The condition isn't always confined to the skin. The eye and mouth might be affected, or the gastrointestinal tract, for example. In this girl's case, the disorder ravaged her esophagus, the muscular tube that carries food from the throat to the stomach. Dr. T.S. Gunasekaran, a pediatric gastroenterologist at Lutheran General Hospital in Park Ridge, first saw her a couple of years ago. It was an emergency case. The 2-year-old couldn't swallow. The blisters that grew on her skin also grew on the lining of her esophagus, narrowing the food pipe in several places. "When it forms these little blisters, it swells and blocks the esophagus," Gunasekaran said. "She will spit out everything and retch and gag." He'd treated "esophageal strictures" before, but not when the narrowing was due to this rare condition that left the toddler's food pipe so fragile. "I've had a lot of experience dealing with esophageal strictures in other conditions," he said. "But this was new for me. Any time you do something new, you're concerned. It was a big challenge." The challenging part was trying to be aggressive enough to open her esophagus without tearing a hole through it - a very real risk given its fragility and multiple areas of narrowing. A perforated esophagus demands surgery and might even result in death. "I don't want this child to have a perforation because starting an IV would be a challenge. Any time you put anything on the skin, it can cause problems in these patients," he said. "I was nervous. If the child had a complication, what would be the outcome?" While the girl was under general anesthesia, Gunasekaran threaded an endoscope into her food pipe and opened the blockage by inflating a tiny balloon, much like what is done to heart patients during an angioplasty. Pressure from the balloon ruptured the blisters and opened up the food pipe again. It's called dilation of the esophagus, and it's the preferred treatment for these types of strictures. In addition to having a very soft and vulnerable esophagus, the girl's multiple blockages further complicated matters. "Any time there are multiple dilations in the same organ, there's a higher risk of perforation," Gunasekaran said. Despite the substantial risks, the girl's esophagus didn't tear during the procedure and she was able to swallow again. After some months, she came back with the same problem. Gunasekaran has had to do the same touchy operation three times. So far, each one has been a success. But Gunasekaran still gets nervous. "Each time I do it, it's like walking through fire," he said.

- If you're a physician, the Daily Herald would like to hear about your toughest case. Call Lorilyn Rackl at (847) 427-4734 or e-mail lrackl@@dailyherald.com. Archives The Daily Herald offers archives dating back to 1995. Visit the Daily Herald's Web site atDaily Herald to search the archives.