Literature Review

Abstract

Central centrifugal cicatricial alopecia (CCCA) has reached a surprising prevalence of 5.6% and is the most common form of scarring alopecia in women of African ancestry. Its etiology was long thought to be either triggered or exacerbated by hair grooming practices such as hot combs with petrolatum products, but more recent data suggests it may have an autosomal dominant inheritance pattern. This study was done to more fully investigate and characterize the genetic basis for CCCA. Researchers from around the world (Israel, Germany, South Africa, France, and the United States) worked together on this paper. Data from 16 patients (discovery set) were analyzed, and they found one splice set and three heterozygous missense mutations in PADI3 in 5 patients (31%). The PADI3 encodes for peptidyl arginine deiminase, type III, an enzyme that post-translationally modifies other proteins that are essential to hair shaft formation. Immunofluorescence staining showed decreased expression of PADI3 in biopsy samples of patients with CCCA. Additional analysis showed that the prevalence of the PADI3 mutation was higher among patients with CCCA than in a control cohort of women of African ancestry (P=.02). Comment: Central centrifugal cicatricial alopecia has previously gone by names used to identify its etiology: Hot comb alopecia and follicular degeneration syndrome. The most recent term, CCCA, set forth by the North American Hair Research Society has been the most clinically accurate and descriptive term, describing how it begins in the vertex, enlarges outwardly, and results in scarring destruction of follicles. In 2014, it was suggested to have a genetic component after Dr. Dlova in South Africa published a pedigree analysis of 14 African families affected by this condition and the inheritance pattern appeared to be autosomal dominant. This article is exciting in that it provides additional support for the genetic basis of CCCA. n