Browsing by Author "Dlova, Ncoza"

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    Frequency of the Types of Alopecia at Twenty-Two Specialist Hair Clinics: A Multicenter Study
    (2019) Vañó, Sergio; Saceda, David; Blume, Ulrike; Cucchía, José; Dlova, Ncoza; Reis, María; Grimalt, Ramón; Guzmán, Daniela; Harries, Matthew; Hoi, Anthony; Holmes, Susan; Larrondo, Jorge; Mosam, Anisa; Oliveira, Rui; Pinto, Giselle; Piraccin, Bianca; Pirmez, Rodrigo; De la Rosa, Daniel; Rudnicka, Lidia; Shapiro, Jerry; Sinclair, Rodney; Tosti, Antonella; Trüeb, Ralph; Vogt, Annika; Miteva, Mariya
    Background: The frequency of different types of alopecia is not clearly reported in recent studies. Objective: To analyze the frequency of the types of alopecia in patients consulting at specialist hair clinics (SHC) and to assess for global variations. Methods: Multicenter retrospective study including data from patients evaluated at referral SHC in Europe, America, Africa and Australia. Results: A total of 2,835 patients (72.7% females and 27.3% males) with 3,133 diagnoses of alopecia were included (73% were non-cicatricial and 27% were cicatricial alopecias). In all, 57 different types of alopecia were characterized. The most frequent type was androgenetic alopecia (AGA) (37.7%), followed by alopecia areata (AA) (18.2%), telogen effluvium (TE) (11.3%), frontal fibrosing alopecia (FFA) (10.8%), lichen planopilaris (LPP) (7.6%), folliculitis decalvans (FD) (2.8%), discoid lupus (1.9%) and fibrosing alopecia in a pattern distribution (FAPD) (1.8%). There was a male predominance in patients with acne keloidalis nuchae, dissecting cellulitis and FD, and female predominance in traction alopecia, central centrifugal cicatricial alopecia, FFA, TE, FAPD and LPP. Conclusion: AGA followed by AA and TE were the most frequent cause of non-cicatricial alopecia, while FFA was the most frequent cause of cicatricial alopecia in all studied geographical areas.
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    Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
    (2026) Keller-Rosenthal, Noy; Sarig, Ofer; Malovitski, Kiril; Rubinstein, Rotem; Haitin, Yoni; Larrondo Gálvez, Jorge Felipe; Lenzy, Yolanda; Dlova, Ncoza; McMichael, Amy; Sprecher, Eli
    Central centrifugal cicatricial alopecia (CCCA) is the most common form of primary scarring alopecia in women of African descent, typically characterized by progressive hair loss originating at the vertex of the scalp. Although genetic susceptibility has been implicated in the pathogenesis of CCCA, only 1 gene (PADI3, encoding peptidyl arginine deiminase 3) has been thus far associated with CCCA. This study aimed to broaden our understanding of the genetic basis of CCCA by analyzing whole-exome sequences from 75 patients with clinically and histologically confirmed CCCA. We identified 9 pathogenic heterozygous variants in PADI3, including, to our knowledge, 4 previously unreported missense variants, all predicted to disrupt protein function. Functional analyses revealed reduced expression, abnormal intracellular localization, and diminished enzymatic activity in cells transfected with constructs expressing the PADI3 variants. More interestingly, pathogenic variants were identified in 2 additional genes, S100A3 and TCHH, which encode the main substrates of PADI3, S100 calcium-binding protein A3 and trichohyalin. Both proteins play critical roles in hair shaft integrity. The S100A3 variant was found to cause reduced citrullination by PADI3, whereas TCHH variants altered intracellular localization and resulted in significantly reduced expression of the protein. These findings provide further insights into disease mechanisms and may inform future strategies for genetic testing and targeted therapies.

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