According to a recent article, a little boy’s parents are bringing awareness to the rare genetic disorder called uncombable hair syndrome after he was diagnosed at just 14 months old.
Uncombable Hair Syndrome
Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. This condition develops in childhood, often between infancy and age three, but can appear as late as age 12. Affected children have light-colored hair, described as blond or silvery with a glistening sheen. The hair does not grow downward but out from the scalp in multiple directions. Despite its appearance, the hair is not fragile or brittle, and it grows at a normal or slightly slower rate. Only scalp hair is affected in uncombable hair syndrome.
For unknown reasons, this condition usually improves over time. By adolescence individuals with uncombable hair syndrome have hair that lies flat and has normal or nearly normal texture.
Causes:
Uncombable hair syndrome is caused by mutations in the PADI3, TGM3, or TCHH gene. These genes provide instructions for making proteins that help give structure to the hair strand (shaft).
The proteins produced from the PADI3 and TGM3 genes modify the protein produced from the TCHH gene, known as trichohyalin. The modified trichohyalin can attach (bind) to other trichohyalin proteins and to molecules called keratin intermediate filaments to create organized cross-links. These links form dense networks that provide structure to the hair shaft and give it a cylindrical shape.
Getting Diagnosed
At only nine months old, Locklan’s parents noticed his hair was different from others his age. His bright blonde hair stood straight up and was fuzzy. One day, his mother received a message from a stranger asking if Locklan had been diagnosed with UHS. Immediately, Locklan’s mother Katelyn Samples looked into the syndrome and reached out to her son’s pediatrician, who suggested they see a specialist. After meeting with a specialist, Locklan was officially diagnosed with UHS.
Spreading Awareness
UHS is a genetic mutation that is inherited. So far, there are only 100 confirmed cases in the world, making it extremely rare. Due to this, Locklan’s mother started an Instagram account (@uncombable_locks) in an effort to bring awareness to the disorder. On this account, she posts updates about Locklan’s journey and posts pictures of him.
Currently there are no treatment options for UHS. The condition can begin at three months old and typically lasts until puberty. The only major symptom is the hair being fuzzy and sticking straight up with it being unable to be combed down. Despite this one symptom, those diagnosed live a fairly normal life.
Other children diagnosed with UHS have also shared their journey. Florence Patterson, a six-year-old girl, also has UHS. Her parents reached out to local news outlets in an effort to stop people from commenting on their daughter’s hair. According to her parents, people make fun of the child and even attempt to touch her hair when they’re simply walking down the street. Her story shows that people need to be more understanding of the medical condition, and there needs to be more awareness for this rare disorder.
