The Genetic Mutation Behind ‘Uncombable Hair Syndrome'

"Bad hair" comes in all shapes, sizes, and severities. But for some people, the untamable tumbleweed atop their heads might actually be the result of a genetic mutation.

A particular variety of bad hair caught the attention of a geneticist at Germany's University of Bonn. "Uncombable hair syndrome," "spun glass hair," or "Struwwelpeter syndrome" (named for the fictional protagonist of Heinrich Hoffmann's cautionary fable, Der Struwwelpeter) exhibits several symptoms that differentiate it from the typical messy 'do. People with this disorder generally have frizzy, dry, often light blonde, and—obviously—impossibly uncombable hair.

Professor Regina Betz, who specializes in the genetic causes of hair disorders, became interested in the condition after observing almost a dozen people with the same synthetic-looking, doll-like hair. Eventually, Betz was able to sequence their genes, and discovered something remarkable: mutations causing uncombable hair syndrome in three functionally related genes responsible for the formation and structure of hair.

"From the mutations found, a huge amount can be learned about the mechanisms involved in forming healthy hair, and why disorders sometimes occur," Betz said in a statement.

Betz and an international team of scientists published their results in the American Journal of Human Genetics, claiming to be the first to link uncombable hair syndrome to genetic alterations.

If you searched medical literature for any of these terms, you'd find little written about the rare phenomenon. The first time it was formally described was in 1973 by Dupré et al. who called the condition "cheveux incoiffables." In a later German study, published in 1982, uncombable hair was noted as being shared by six members of the same family. Other records, of which there are fewer than 100, also lend credence to the condition's hereditary nature.

Researchers agree the disorder primarily occurs during childhood and improves with age. Some experts believe the syndrome should be grouped with ectodermal dysplasia, which is a family of 180 genetic disorders that can manifest in hair, teeth, nail, and sweat gland development. However, evidence to support a clinical diagnosis has never resulted from molecular genetic methods, according to Betz. Most sufferers of uncombable hair syndrome "do not necessarily seek help for this from a doctor or hospital," she added.

After sequencing the genes of 11 people with the condition, Betz and her colleagues observed changes in the genes identified as PADI3, TGM3, and TCHH. The first two carry instructions for the production of enzymes, while TCHH encodes for a protein that, when joined together with filaments of keratin—a structural protein found in hair, feathers, and even the stuff that makes up rhino horn—contribute to the shape of individual hair strands.

"PADI3 changes the hair shaft protein TCHH in such a way that the keratin filaments can adhere to it," Fitnat Buket Basmanav Ünalan, the study's lead author, said in a statement. "The TGM3 enzyme then produces the actual link."

In people with uncombable hair syndrome, according to the study, a mutation to one of these genes will render it nonfunctional, causing changes to their hair's structure and contributing to its unique, shimmery appearance. The team tested their findings in the lab by experimenting with mouse cell cultures. By manipulating their PADI3 or TGM3 genes, researchers were able to produce mice born with twisted whiskers and wavy coats.

While there's no proven cure for uncombable hair syndrome, the new study could offer relief to people confused about why their hair looks the way it does. Luckily, this particular disorder isn't associated with other health problems, but that's not say it doesn't cause mental stress due to teasing or anxiety. A good reminder of this is Hoffmann's fairy tale, Der Struwwelpeter, which was intended to warn boys against the maladies of poor grooming, but was also allegedly based on cruel observations of children with ectodermal dysplasia.

Aside from the stress of dealing with unruly tangles, Betz assured "those affected have no need to otherwise worry."

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