Scientists Discovered Which Genes Cause Uncombable Hair Syndrome

By: Kate Kershner  | 
This kid's hair is messy, but probably combable. Children with uncombable hair also have blond hair, but it's impossible to comb flat. JULENOCHEK/ISTOCK/THINKSTOC Julenochek/iStock/Thinkstock

That toy is mine!" "This shopping trip is boring!" Children throw fits for all sorts of reasons. But to some caregivers, nothing is more predictable than children who scream when getting their hair combed.

Kids' hair may get tangled from a restless night, or a weird combination of honey and mashed potatoes that's matted to their scalp. But people with uncombable hair syndrome — a condition characterized by dry, unmanageable hair that usually appears in childhood — have genetic mutations that make their locks nearly impossible to tame.


A new study conducted by an international team of scientists traces the gene mutations in 11 children who have what some people call "Struwwelpeter syndrome," after the bushy-haired character "Shockheaded Peter" from the 19th-century German children's book "Struwwelpeter." But study author Regina Betz, a professor at the Institute of Human Genetics at the University of Bonn, says in an email that she prefers referring to it simply as uncombable hair. If she uses the formal name or word "syndrome," she says, children with uncombable hair might become "stigmatized."

Before you diagnose your knotty-haired, howling child with the condition, know that there's some extremely specific criteria that sets uncombable hair apart from regular tangled strands.

Betz says the weakness of the hair is apparent if you look at it under a microscope. "Compared to round, normal hair, the uncombable hair has some grooves and has the form of a kidney or heart instead of a circle."

And it's not just on a microscopic level; uncombable hair has visible markers as well. "The hair looks dry, frizzy, has a silvery and characteristic sheen and is mostly blond. We do not know the reason for the light hair color," she says. The hair can't be combed flat, and gentle care, like soft brushes and conditioners, is encouraged. Although the condition is untreatable, it usually improves in late childhood.

After experimenting on cell culture, the scientists found that three genes are responsible for uncombable hair: PADI3, TGM3 and TCHH. "The first two contain the assembly instructions for enzymes, while the third — TCHH — contains an important protein for the hair shaft," Betz says. So if one of the three isn't functioning, the structure of the hair changes. Even the mice used in the study had fur changes when the PAD13 or TGM3 genes were defective.

Betz says there is "little description" of the condition from countries in Africa or aboriginal Australian cultures.  And keep in mind it's quite rare in general: Only a hundred or so cases have been documented worldwide since the 1970s.  

So, while it's probably unlikely that your stomping toddler has this rare condition, mashed potatoes and honey don't help. 


Frequently Answered Questions

What is the life expectancy of Menkes disease?
There is no cure for Menkes disease, and most affected babies die before age 3.