Mutations in a gene called PADI3 appear to be the most common cause of a rare condition that causes hair to stick out at right angles to the scalp
31 August 2022
If you see a child with frizzy blonde hair that sticks out at right angles to their scalp, they may have uncombable hair syndrome. A new study has shed more light on this rare condition, which can be caused by various mutations that affect the shape of people’s hair.
The syndrome, which tends to shrink and even disappear starting in adulthood, is most noticeable in children who are white with pale blonde hair and can cause affected children to be bullied, he says. Buket Basmanav at the University of Bonn in Germany. “We’ve been able to offer some explanation for the hair that has always drawn a lot of attention.”
Uncombable hair syndrome, also known as spun glass hair syndrome, was known to be caused by the formation of hair on the head with a distorted cross-section, rather than the usual circular or oval shape. In 2016, Basmanav and his colleagues identified variants of three genes in 11 children what can cause unusual hair.
The condition is inherited in a way that means both parents must carry a genetic variant, although they themselves are not affected, which means families may be puzzled as to why their child has hair that literally cannot be combed. .
The publicity from the initial study led to more people contacting the team who had affected children or said their hair had been like this when they were younger. It is not known why hair thins out as people age.
In the latest study, the team studied a larger set of 107 affected people and identified a genetic cause in 80 people. In 76 of these people, mutations in a gene called PADI3 they were responsible. PADI3 encodes an enzyme that helps produce trichohyalin, which is one of the main proteins in hair, along with keratin.
In the future, people who suspect their child has uncombable hair syndrome will be able to confirm it with a genetic test, says Basmanav. This would provide reassurance that the child does not have a serious medical condition and that her hair will become more manageable with age.
Magazine Reference: JAMA Dermatology, DOI: 10.1001/jamadermatol.2022.2319
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