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A little boy’s fragile skin and stunted growth spur an eight-year search for answers

From the infant’s first moments, his mother thought something seemed off. And she soon learned that the newborn’s doctors thought so, too.

“The doctors immediately took him away,” said Ms. O. Although the newborn boy was born four days overdue, he weighed a mere 5 pounds and 4 ounces. More striking, though, was how his scalp was missing a patch of skin.

“They took off his little hat and it looked like his head was bleeding, but when you touched it, there was no blood on your hand,” Ms. O said. Doctors were puzzled, and at only 1 week old, the boy was the guest of honor at the hospital’s medical grand rounds, a tiny baby at the center of a crowd of dermatologists.

And that was only the beginning of the O family’s saga. From his birth in 2009 until

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