what is the rare disease

A rare genetic condition called messy hair syndrome causes hair to be messy, frizzy, and straw-colored. Here’s what we know.

Locklan’s small samples. Credit: uncombable_lock / Instagram

In the United States, a child with a genetic condition called messy hair syndrome has become an Internet star, thanks to the Instagram profile created by his parents and his story being told on several television programs. The syndrome, also known as “pili trianguli et canaliculi”, as Orpha.net states, is a “rare dysplasia of the hair shaft of the scalp”, which usually affects children between three months and 12 years of age. Suffering hair, like Locklan Samples (Georgia’s baby), gets frizzy and messy, takes on a silver-blonde/straw-yellow color, and is unmanageable. Normally, the situation returns to normal with puberty.

Katelyn, the boy’s mum, didn’t realize Locklan’s condition until a stranger contacted her on Instagram after seeing a photo, telling her if by any chance she knew she had ‘syndrome’. uncomfortable hair. Alarmed by the information, she immediately contacts her pediatrician, who has never heard of it; after all, according to the National Institutes of Health (NIH), only about 100 cases are known in the medical literature. The doctor referred her to a pediatric dermatologist at Emory Healthcare in Atlanta, who officially diagnosed Locklan’s condition.

As the NIH points out, most known cases of messy hair syndrome are isolated, but in some cases it occurs alongside other conditions, including ectodermal dysplasia, Bork syndrome, pigmentary dystrophy of retina, juvenile cataract, dental enamel abnormalities, oligodontia, phalangoepiphyseal dysplasia, alopecia areata, atopic eczema and other conditions reported by Orpha.net. The trigger is a mutation in three genes called PADI3, TGM3 and TCHH, which code for proteins involved in hair development.

As indicated, the hair of those affected gradually fades and takes on the characteristic color, also resulting dry, messy and impossible to flatten with the comb, due to the triangular grooves along the hair shaft. “When you look under the microscope, you can see that instead of being shaped like a cylinder, the hair shaft is actually more triangular in shape,” said Dr. Carol Cheng, a pediatric dermatologist at UCLA Health, to ABC who spoke to explain the case by Locklan Samples. “Inside the triangle, there are these little grooves that go up and down the hair shaft, which is why they make it really difficult to style,” added the scientist.

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Fortunately, the condition improves significantly in late childhood, eventually disappearing at puberty. There is no treatment, but as the NIH points out, the recommendation is to treat your hair gently with conditioners and soft brushes, as well as avoiding perms, chemicals, and over-processing for hair. dry and brush them. Biotin supplements appear to improve the ability to comb hair, as evidenced by a case report reported by the NIH. Specialized Facebook groups like those followed by the mother of little Locklan can be valuable sources of advice.

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