PADI3 mutations found in Patients with Central Centrifugal Cicatricial Alopecia

Gene Mutations in PADI3 found in about 1/3 of Women with CCCA

CCCA is a scarring alopecia that occurs in about 15 % of black women. It also occurs in some families (in an autosomal dominant manner) suggesting that there may be some underlying genes that predispose women to CCCA.

A new study by Malki et al identified mutations in the PADI3 gene in 14 of 58 patients with CCCA (24%). When the authors examined the frequency of mutations in patients with CCCA compared with a control group of 2702 women of African ancestry that did not have CCCA, it was found that mutations were slightly more common in patients with CCCA than controls (P=0.04).

Summary and Conclusion

This is an interesting study which opens up some important questions in the field of CCCA research. PADI3 plays a key role in formation of the hair shaft. The gene encodes peptidyl arginine deiminase, type III (PADI3), an enzyme that post-translationally modifies other proteins that are essential to hair-shaft formation.

Mutations in this gene appears slightly more common in CCCA than control groups. The PADI3 gene is well known to contribute to another hair shaft condition known as uncombable hair syndrome (UHS). Interested readers can review a prior article written on the UHS:

Uncombable: New Insights into a Rare Condition.

Reference

Malki et al. Variant PADI3 in Central Centrifugal Cicatricial Alopecia. New Engl J Med. 2019 Feb 28;380(9):833-841.

Donovan J. Uncombable: New Insights into a Rare Condition.