Hair Shaft Structures in EDAR Induced Ectodermal Dysplasia

In the 2015 study by Stecksén-Blicks et al., the hair structures of 37 Swedish family members, 17 of whom had a heterozygous c.1072C>T mutation in the EDAR gene, were compared to 32 unrelated individuals without the mutation. Using scanning electron microscopy, the researchers found that those with the mutation had significantly thinner hair shafts with more deformations, with males in the mutation group having an average hair thickness of 51 µm compared to 71 µm in the control group. The findings support the role of the EDAR gene in hair follicle development and suggest that the c.1072C>T mutation is associated with hair shaft deformations and thinner hair. Sparse hair and fewer hair shafts were also observed in mutation carriers, and variations in hair deformities were noted, including thin twisted hair in some subjects. The study was limited by the inability to include an individual with complete baldness in the hair analysis. No competing interests were declared by the authors.