Bad hair day! A rare genetic mutation can cause 'Uncombable Hair Syndrome'

In the 2009 documentary film Good Hair (now streaming on Peacock!), Chris Rock digs into the complications and societal expectations surrounding hair, particularly as it pertains to Black women. The documentary interfaces with the perceived negativity that surrounds certain types of hair, and the privilege or lack of it that results.

It’s a window into an area of life some of us don’t often consider, the ways in which racism, prejudice, and preconceived notions bleed into every facet of our society. The takeaway is that there’s no such thing as good hair or bad hair — or at least there shouldn’t be — there is only the hair we have.

Hair comes in all sorts of configurations. Differences in the shape of the follicle and hair fibers themselves determine whether a person’s hair is straight or curly, thick or thin. And an even rarer condition gives a small population of people some of the most unusual hair on the planet.

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Uncombable Hair Syndrome might sound like a condition crafted in the SNL writers’ room for an upcoming sketch, but it’s entirely real. Only about 100 cases have ever been reported and scientists have, for a while, been unclear on its cause.

Individuals diagnosed with Uncombable Hair Syndrome exhibit wispy, sometimes silvery hair which stands out in all directions. Rather than fall downward as most hair does, at least most of the time, UHS hair grows straight out of the follicle. No matter how hard they try, their hair just doesn’t respond to outside influence. It won’t lie flat, no matter how long you brush it, leaving affected people looking as if they’ve dragged their socks over the carpet too long.

Rare conditions are incredibly difficult to study, owing to the small sample size and difficulty gathering data, but scientists at the University of Bonn have started to make inroads toward understanding UHS. In 2017, they completed a small study of 11 individuals, each of whom had been identified as an UHS case. Those initial 11 subjects were all children, which isn’t uncommon for UHS. In most cases, the hair settles down as children get older. Consequently, scientists believe there may be many more people with UHS who have reached adulthood and are unaware.

After the initial study, researchers received contact from people all over the world who believed they or someone they knew had UHS. So, they started gathering samples. In the end, they identified 107 potential UHS individuals and set to work combing through their DNA.

The results of the new study were published Aug. 31, 2022, in the journal JAMA Dermatology. Nearly three quarters of the participants — 80 of the 107 participants — shared a mutation in a single gene known as PAD13. That gene is responsible for producing an enzyme which plays a part in the formation of hair shafts.

Typically, hair grows like a cylinder, almost perfectly round even at a microscopic level. When PAD13 is mutated though, the cylinder collapses in places, making the shaft almost look crumpled. It’s believed that this characteristic is responsible for UHS hair’s temperamental behavior. Of the 27 participants who did not have that particular variation, a few had variations in other hair shaft genes. The rest remain unexplained.

Researchers hope now that they’ve identified a common gene responsible in most cases, and that it can be diagnosed and help to assuage any fear in the minds of parents. The good news is there’s no medical concerns for folks with UHS. The syndrome generally resolves itself over time and, even if it doesn’t, there aren’t any downstream effects. Except, perhaps for a larger than normal hat budget.