Having bad hair happens to everyone. But the cases described in this episode of Weird patient are downright pathological! After that, you will see your “ bad hair day ” in another way.
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In 1978, a two-year-old Ashkenazi Jewish boy was the center of attention of pediatricians at a Tel Aviv hospital. Well, it’s his hair that intrigues them because apart from that, the child is completely normal. Her hair, very light blonde with a strange shine, is dry, coarse, frizzy and simply impossible to comb. The parents were not alerted to their son’s hair situation; They also had the same hair when they were little.
The boy’s hair is analyzed using an electron microscope to visualize its structure. It turns out there’s nothing ordinary about them. They have one or two vertical grooves which modify their shape. Rather than round or oval, they are triangular or bean-shaped.
At the same time, on the other side of the Mediterranean, André Dupré and his colleagues, French doctors, made the same observation. A family in which three children have unmanageable hair. The mother and father say they had the same one before it disappeared over the years. Doctors decide to name this strange condition for the first time: uncombable hair syndrome or pili trianguli and canaliculi.
We’ve all had ” bad hair day », days when our hair rebels and resists our efforts to tame it. More than a reluctant spike or a curled fringe, it is the entire hair of people with uncombable hair syndrome that refuses to be combed. At the time the disease was first named, its origin was unknown, but the fact that entire families were affected still gave doctors a clue. Unmanageable hair syndrome appears to be rooted in genes.
Uncombable hair, a matter of genetics
We will have to wait until 2016 to know the end of the story. German researchers are undertaking a genetic study on 11 patients with rebellious manes. The first family taking part in the study is English, two children with normal hair and two others who appear to have uncombable hair syndrome. Analysis of their genome, more precisely of the PAD13 gene located on the chromosomechromosome 1 puts in lightlight a nonsense mutation in the latter. It is present on both versions of the gene.
Genetic analysis of other patients confirms that a mutation in PAD13 is indeed the cause of uncombable hair syndrome, as are mutations in TGM3 and TCHH. These three genes code for proteinsproteins homonyms: PAD13 and TGM3 are enzymesenzymes and TCHH, a structural protein, target of the first two. All three are involved in the formation of the hair shaft. The mystery of unmanageable hair is solved.
Because the disease goes away on its own in adulthood – most patients are between 3 months and 12 years old – and does not cause other health problems, there is no treatment to cure it. THE diagnosticdiagnostic is based on confirmation of the abnormal shape of several hairs, visible under an electron microscope, accompanied by other tests to rule out any other disease that affects the appearance of the hair. There is not much you can do to tame unmanageable hair, gentle products can help, but patience remains the best remedy.
