Aug. 31 (UPI) -- New research suggests there is a way to focus on specific atypical genes to diagnose uncombable hair syndrome -- a rare hair shaft anomaly on the scalp characterized by dry, frizzy, shiny and wiry hair that cannot be combed flat.
Previously, it has taken a physical exam, followed by microscopic examination of the hair shaft, to diagnose the syndrome. Only about 100 known cases have been reported.
The research findings from scientists at the University of Bonn in Germany were published Wednesday in JAMA Dermatology.
Dr. Regina C. Betz, the leader of dermatogenetics at the University of Bonn Medical Center, led the study.
Betz told UPI in an email that dermatologists should be able to diagnose uncombable hair syndrome, but not other doctors; and some people affected by the condition don't visit a doctor.
For these reasons, the condition, while rare, is underreported and "more common than earlier thought," she said. While the situation improves with age, there is "no real treatment available."
The syndrome, also referred to as "spun glass hair," is usually characterized by silvery-blond or straw-colored hair that is disorderly and stands out from the scalp, according to the Genetic and Rare Diseases Information Center.
The center is part of the National Institutes of Health's National Center for Advancing Translational Sciences.
Most cases are isolated, but in some cases uncombable hair syndrome has been associated with other diseases, such as Bork syndrome, the NIH center says. And the condition sometimes spontaneously improves in late childhood.
The new research sought to better explain the genetic spectrum of uncombable hair syndrome.
The scientists said the discovery of pathogenic variants in the genes PADI3, TCHH, and TGM3 "may open a new avenue for clinicians and affected individuals by introducing molecular diagnostics" for uncombable hair syndrome.
These genes code for proteins that are involved in hair shaft formation.
The study involved 107 unrelated patients with a suspected diagnosis of uncombable hair syndrome and family members, recruited worldwide.
The researchers, who described the study's participants as being "of all ages, races and ethnicities," conducted genetic analyses in Germany, genotyping DNA extracted from blood or saliva samples.
They found that PADI3 was most commonly associated with this rare hair phenotype.
The results "also suggest that the 4 most commonly observed pathogenic PADI3 variants are far more likely to have descended from a respective common ancestor rather than having had occurred independently multiple times," the research paper concludes.