Born Without Fingerprints: Scientists Solve Mystery of Rare Disorder

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For the handful of people without fingerprints the physical impacts are few.

Maynard has normal feeling in her fingers, though the lack of fingerprints deprives her of some grip, which makes dealing cards or turning pages more difficult.

But the lack of fingerprints is not the diseases' only, or even most serious, impact.

Patients also experience thickening of their palms and soles of their feet. They suffer from anomalies in the development of their teeth, hair, and skin, where pigmentation can appear patchy and uneven.

Most dangerously, they have skin issues that can inhibit their ability to sweat normally.

"That's the only really serious manifestation as far as potential harm," said professor Eli Sprecher of the Technion-Israel Institute. Sprecher is co-author of the study that discusses the conditions in the October issue of the American Journal of Human Genetics.

"Because they cannot evacuate heat, they can develop heat stroke."

Maynard added that this problem has always made sports a trial.

"I swam competitively as a kid, but some parents would always ask why I was sitting on the side of the pool. My mom would have to tell them, Even though the water is cold, she's overheated from swimming."

As an adult Maynard is careful to stay hydrated, keep ice packs handy, and use air conditioning for most of the year.

Link to "Suicidal Cells," Cancer?

Unfortunately for those who suffer such ailments, a cure is not at hand.

But the protein culprit, first identified by Technion graduate student Jennie Lugassy, could be the clue to cracking more common and dangerous diseases.

According to Gabriele Richard, study co-author and geneticist at Thomas Jefferson University, "apparently keratin 14 is very important for developing skin in the fetus and creating the fingerprints."

(See an overview of human genetics.)

Researchers are also pondering the protein's connection with programmed cell death—information that could someday help with many skin disorders.

Programmed cell death, a form of cellular suicide, is the way that cells typically expire when the useful phase of their existence is complete. The process is often disabled in cancer cells, allowing them to live and proliferate.

"It looks as if the disease is associated with the inability of the cell to produce normal levels of keratin 14," Sprecher said.

"It would be interesting to determine if keratin 14 has a role in cell death."

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