Uncombable Hair Syndrome

Uncombable hair syndrome is an uncommon aberration of the hair shaft that typically affects children and gets better as they get older; other names for it include “pili trianguli et canaliculi,” “spun glass hair syndrome,” and “cheveux incoiffables.”

Hair in patients with uncombable hair syndrome is dry, frizzy, and unmanageable. The symptoms of uncombable hair syndrome typically arise in childhood, typically between infancy and three, but can show up as late as twelve.

Children affected by this condition have hair that is a lighter shade, often described as silvery or blond, and has a reflective quality. Instead of growing straight down from the scalp, the hair spreads in all directions.

Despite its seeming fragility and brittleness, the hair grows at a rate that is either typical or somewhat slower than average. The uncombable hair syndrome only affects the hair on the scalp.

Uncombable hair syndrome typically improves with time for reasons that are not fully understood. Kids with uncombable hair syndrome eventually develop flat-lying hair and normal or almost normal texture when they reach puberty.

There is no information available regarding the frequency of uncombable hair syndrome; nevertheless, there have been at least 100 cases recorded in the research journals. There are probably more people who have the condition. Still, it has not been identified because adults who appear unaffected by it may have suffered from uncombable hair syndrome as children.

Most cases of uncombable hair syndrome occur independently; however, in a few instances, it has been recorded in combination with other disorders. These diseases include ectodermal dysplasias, Angel-shaped phalangoepiphyseal dysplasia, and Bork syndrome. It has been shown that mutations of the genes TCHH, TGM3, and PADI3 are responsible for the condition.

These three genes are responsible for the production of proteins that play an important role in the development of the hair shaft. It is believed that uncombable hair syndrome is passed down via the autosomal recessive mode of inheritance; however, there could also be cases in which the autosomal dominant mode of inheritance passes it down due to the additional genes involved in hair development.

Patients with uncombable hair syndrome frequently experience spontaneous regression of their condition in late childhood. There has been some published research that point to the possibility that biotin could help improve the disease.

Causes Of Uncombable Hair Syndrome

Mutations in the TCHH, TGM3, and PADI3 genes are responsible for uncombable hair syndrome. These genes supply the details needed to make the proteins that structure the hair strand. Trichohyalin, also known as the protein created through the TCHH gene, can be modified by the proteins produced from the PADI3 and TGM3 genes.

The modified trichohyalin is capable of attaching (binding) to similar trichohyalin proteins as well as to molecules that are known as keratin intermediate filaments to generate structured cross-links. These links combine to produce dense networks that give the hair shaft structure and help it maintain its cylindrical shape.

Mutations in the TCHH, TGM3, and PADI3 genes likely result in synthesizing proteins with reduced or eliminated activity. Because of this, the structure of the hair shaft is altered. The hair does not have the shape of a cylinder but instead has a cross-section that is either triangular, heart-shaped, or flat. The hair shaft has an angular shape, preventing it from lying down in a flat position. Sometimes, these unusual shapes can appear simultaneously on a given strand of hair.

In children who have uncombable hair syndrome, anywhere from fifty percent to one hundred percent of the strands of hair have an atypical appearance. In addition, the unusual hair reflects light in a manner that is distinct from that of normal hair, which accounts for its shimmering quality.

Some individuals have been diagnosed with uncombable hair syndrome and do not have a known mutation in any of these three genes. There is no way of knowing what led to the ailment in these particular people.

Patterns Of Inheritance for The Uncombable Hair Syndrome

Uncombable hair syndrome is passed down through generations when both sets of chromosomes contain a mutated copy of the PADI3, TGM3, or TCHH gene. Parents of a child with a disorder passed down by autosomal recessive inheritance each contain one copy of the defective gene. Still, in most cases, the parents do not exhibit any signs of the condition.

In some instances, uncombable hair syndrome is passed in an autosomal dominant manner with reduced penetrance. This indicates that each cell only takes one copy of the mutated gene to induce the disorder.

When a person who carries a mutation that results in an autosomal dominant disorder has offspring, those children each have a chance of inheriting the mutation at a rate of one in two, or 50%. A reduced penetrance indicates that not everyone who carries a mutation in the gene responsible for the disorder will be affected.

Because of this, conditions with low penetrance might give the impression that they “skip a generation” or occur for the first time in a family. Alternatively, they can appear only once in a generation.

A person affected by this mutation typically inherits it from one of their affected parents, although the gene related to this condition is unclear. In several further instances of the uncombable hair syndrome, the inheritance pattern is unknown.

Genetics experts recommend that anyone with particular questions regarding genetic concerns or genetic tests for themselves or family members connect with a genetics expert.

Can Black People Suffer from Unmanageable Hair Syndrome?

Uncombable hair syndrome is a condition that only affects persons with blond or other light-colored hair, and it is most prevalent in people of Caucasian descent.

Conclusion

The beginning of puberty is associated with a typical improvement or complete resolution of the problem. Conditioners and gentle brushes on your hair are recommended for gentle hair maintenance. Aside from avoiding harsh hair treatments, it is also advised to limit the amount of brushing and blow drying done to the hair. These practices can reduce the stress that comes with the disorder.