According to UKZN, patients with CCCA were recruited from Durban, South Africa, from 2013 through 2016 and in Winston-Salem, North Carolina, from 2014 through 2017.
CCCA is defined as hair loss or spot balding that starts from the central (crown) part of the scalp and radiates outward in a circular pattern. CCCA causes the destruction of the hair follicles leading to scarring and permanent hair loss.
“It is very common amongst women of African descent. The root cause of this condition has always been elusive and alluded to the use of damaging chemical products on the hair as well as the application of heat brushes, hot combs or straighteners. It has often been confused with female pattern hair loss or common baldness which is a completely different entity,” the university said in a statement.
Dlova said that the discovery is “probably the biggest breakthrough in South African Dermatology”
“This discovery is a first in the world, and it followed links to my earlier publication of 2013, in which I reported for the first time a familial association in a cluster of black South African families with CCCA and have been following the 15 families for 5 years, and 7yrs later a gene has been identified. This has huge implications on early diagnosis, prevention and possible future targeted therapy of CCCA,” she said.
“None of this would have been possible without the families and our patients showing the will to participate in our research endeavours. I am also grateful to my local and international colleagues for working with me and this is indeed testimony to the power of diversity in research,” said Dlova.
This study found that the gene, peptidylarginine deiminase 3, (PAD13); which mediates posttranslational modification of proteins essential for proper hair shaft formation was mutated in the majority of affected patients suggesting that the disease is genetically heterogeneous.
The scientists also found that the distinct variants in PADI3 in each of the disorders may account for the difference in clinical outcomes. So what can we learn from these research findings? The results suggests that PADI3 mutations predispose individuals to CCCA and this presents or is triggered by environmental factors like damaging hair grooming practices like use of hair chemicals, traction, heat, braids and weaves. This implies that in affected families, the above mentioned practices should be totally discouraged. Larger studies are still needed in order to justify genotyping of asymptomatic women.
The Los Angeles Hair Transplant Group leader Dr Umar Sumerr commended the scientists.
“Congratulations to Ncoza C Dlova… This ground-breaking work is the first to establish a genetic basis for this vexing cause of alopecia. Kudos Prof!” he said.