In the Loop

News and views from across Mayo Clinic

October 13, 2015

This Is so Rare, I’ve Only Seen It Three or Four Times

By In the Loop

Mayo's Michael J. Camilleri, M.D., was finally able to "put the mystery to rest.One of the last things you want a physician to say in response to a peculiar, worrisome health problem is: "That's weird." But that's the response 45-year-old Todd Ennen tells the Rapid City Journal he got when he went to see a doctor after "strange bumps and bruises" began appearing on his body. "It's hard to pinpoint when it all started because I've always been accident-prone," Ennen tells his hometown newspaper. "But then, if I bumped my arm, it would smear my skin right off like it wasn't even attached."

Bandages didn't help, the Journal reports, but would simply "take the skin right off" with them. "I knew something wasn't right," Ennen tells the paper. He  was referred to a dermatologist, but he says a "series of drug treatments" didn't help, either. A second dermatologist referred him to an auto-immune specialist. Still no answer. "I was so frustrated that they couldn't figure out what it was," he tells the Journal.

Ennen was advised to "go to the Mayo Clinic or the University of Colorado" for additional tests and evaluations, the Journal reports. He chose Mayo's Rochester campus, in part because he'd been treated there in the past for an "unrelated heart condition." That turned out to be the right call. Mayo's Michael J. Camilleri, M.D., was finally able to "put the mystery to rest," the newspaper says, diagnosing Ennen with epidermolysis bullosa acquisita. The condition, "in which the immune system attacks the fibers that hold his skin on," is so rare that "only 27 other people in the United States and Europe" have been diagnosed with it, according to the Journal. "Dr. Camilleri knew what it was the minute he looked at it," Ennen says. "He had seen at least three or four similar cases in his 30-year career. It felt great that we finally had some kind of an answer to the riddle."

With a diagnosis in hand, Dr. Camilleri "placed Ennen on a series of steroid treatments and other medications in an attempt to slow the disease down." And, according to the Journal, Ennen was set to return to Mayo today, Oct. 13, "for further treatment involving infusions of intravenous fluids and medications in an attempt to send his sickness into remission." Ennen's family says that would be the best possible outcome after everything he's had to endure. "The most ideal outcome is we would all wake up one morning and it would be gone," Duane Ennen, Todd's father, tells the Journal.

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Tags: Dermatology, Dr Michae J. Camilleri, Patient Stories

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