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 3, 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.

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 prevalence of uncombable hair syndrome is unknown; at least 100 cases have been described in the scientific literature. There are likely more people who are undiagnosed because adults who seem unaffected may have had uncombable hair syndrome in childhood.

When uncombable hair syndrome is caused by mutations in the PADI3, TGM3, or TCHH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Published Date: May 01, 2017
Published By: National Institutes of Health