Just think about it When was the last time you visited your doctor because of a bad hair day? Many parents know from their own experience that it is not always easy to comb children’s hair. Some children suffer from completely tangled hair which cannot be combed at all. This phenomenon is known as uncombable hair syndrome.
It is a rare genetic mutation. Scientists have identified mutations in three genes that are responsible for this.
In the case of “uncombable hair syndrome,” brushes and combs don’t even stand a chance. Those who are affected by it have extremely frizzy, dry and generally light blonde hair with a certain shine, which will resists any attempt to tame it. The symptoms are mostly found in childhood and then ease over time.
Diagnosis of this condition is done by spliting the hair in half and placing it under a high-powered scanning electron microscope. Straight hair appears round, curly hair appears oblique, but uncombable hair is triangular or heartshaped at the cross section and grooved from root to end.
Three genes known as PADI3, TGM3, and TCHH direct the process which causes this syndrome. If just one of these genes malfunctions, the structure and stability of the hair is affected. Only about 100 cases have ever been reported, though the researchers suspect not all sufferers are reporting their symptoms.
Fortunately for patients, the hair seems to become more manageable with age, and the syndrome does not have health implications beyond tangled tresses.
Betz is a specialist for rare hereditary hair disorders. A few years ago, she was approached at a conference by a British colleague. She had recently examined a family with two affected children. “Via contact with colleagues from around the world, we managed to find nine further children,” she explains. The scientists sequenced all the genes of those affected. When comparing large databases, they thus came across mutations in three genes that are involved in forming the hair.
“However, we assume that there are much more people affected,” explains Professor Regina Betz from the Institute for Human Genetics at the University of Bonn. “Those who suffer from uncombable hair do not necessarily seek help for this from a doctor or hospital.”For people affected by hair disorders, this last point is good news: some hair anomalies are associated with severe concomitant diseases, which sometimes only become manifest in later life. However, Struwwelpeter syndrome generally occurs in isolation without any other health impairments. Uncombable hair may be tiresome and may also cause mental stress, says Betz. “However, those affected have no need to otherwise worry.”