This article is more than 5 years old. Information may no longer be current.

Specific genotypes may affect alopecia severity in congenital ichthyosis

Patients with congenital ichthyosis and TGM1 and ABCA12 genotypes may be prone to more extensive alopecia, according to a research letter in JAMA Dermatology.

“In this population, severity of alopecia did not correlate significantly with severity of ichthyosis, suggesting that genotype rather than phenotypic severity of disease may have a stronger association with hair loss,” Leonard Milstone, MD, of the department of dermatology at Yale University School of Medicine, and colleagues wrote.

Researchers used the National Registry for Ichthyosis and Related Skin Types to identify 86 subjects with genotypic data and professional photographs of the scalp and body. Male subjects accounted for 43% of the population, and mean age was 27.5 years.

Two experts assessed ichthyosis severity using photographs and Visual Index of Ichthyosis Severity (VIIS), which rates disease severity from a score of 0 (least severe) to 32 (most severe). Two additional investigators calculated Severity of Alopecia Tool (SALT) scores and were blinded to genotype.

Researchers found a positive correlation between VIIS and SALT scores, but the findings were not statistically significant. However, within the TGM1 and ABCA12 genotype subgroups, they found significant positive correlations between the VIIS ( = 0.54; 95% CI, 0.19-0.89) and SALT scores ( = 0.87; 95% CI, 0.39-1.16).

These findings correspond to previous research illustrating the association between alopecia and TGM1 mutations and suggest that ABCA12 mutations could also be associated with alopecia, the researchers wrote.

“Thus, while severities did not appear to be associated in patients with ichthyosis overall, they may have been associated in patients with ABCA12 and TGM1 mutations,” Milstone and colleagues wrote. – by Abigail Sutton

Disclosures: Milstone reports no relevant financial disclosures. Please see the study for all other authors’ relevant financial disclosures.