Federal grant supports study of rare genetic skin disorder

Despite its stable appearance, skin is in a nearly constant state of flux, shedding and re-forming. When the process goes awry, the result can be a troubling disease.

By studying a rare genetic skin disorder, Ernst Reichenberger hopes to broaden understanding of important biological mechanisms in healthy humans.

With a five-year, $2 million grant from the National Institutes of Health, Reichenberger and colleagues in the Center for Restorative Medicine and Skeletal Development will study keloids, a relatively rare wound healing disorder that affects mostly darker skinned populations in the U.S. and around the world.

Reichenberger’s goal is to find the genetic mutations that cause the disorder, and develop the molecular understanding necessary for developing effective treatments.

“We take a genetic approach to the study of human disease,” says Reichenberger, an assistant professor in the Department of Reconstructive Medicine.

“To find out how certain mechanisms operate in a healthy person, we study human genetic disorders in which they are disrupted.”

Keloids occur when scar tissue keeps growing beyond the margin of a wound, resulting in a tumor-like growth that can continue to grow and doesn’t go away with time.

They can arise from a small scratch, a bug bite, even from acne. They are usually physically painful and, because of their appearance, are often emotionally distressing.

For the study, Reichenberger and colleagues in his laboratory are recruiting families with individuals who tend to form keloids.

“Because it is a fairly uncommon disorder, finding individuals to participate in the study can be a challenge,” Reichenberger says, “so we have established a unique network of collaborators for family recruitment.”