Person: Larrondo Gálvez, Jorge Felipe
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Larrondo Gálvez
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Jorge Felipe
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Jorge Felipe Larrondo Gálvez
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Publication Clinical factors and hair care practices influencing outcomes in central centrifugal cicatricial alopecia(2023) Onamusi, Toluwalashe; Larrondo Gálvez, Jorge FelipeCentral centrifugal cicatricial alopecia (CCCA) is the most common form of primary scarring alopecia in women of African descent, negatively impacting their quality of life. Treatment is often challenging, and we usually direct therapy to suppress and prevent the inflammation. However, factors affecting clinical outcomes are still unknown. To characterize medical features, concurrent medical conditions, hair care practices, and treatments used for patients with CCCA and assess their relationship with treatment outcomes. We analyzed data from a retrospective chart review of 100 patients diagnosed with CCCA who received treatment for at least one year. Treatment outcomes were compared with patient characteristics to determine any relationships. P-values were calculated using logistic regression and univariate analysis with 95% CI P < 0.05 was considered significant. After one year of treatment, 50% of patients were stable, 36% improved, and 14% worsened. Patients without a history of thyroid disease (P = 0.0422), using metformin for diabetes control (P = 0.0255), using hooded dryers (P = 0.0062), wearing natural hairstyles (P = 0.0103), and having no other physical signs besides cicatricial alopecia (P = 0.0228), had higher odds of improvement after treatment. Patients with scaling (P = 0.0095) or pustules (P = 0.0325) had higher odds of worsening. Patients with a history of thyroid disease (P = 0.0188), not using hooded dryers (0.0438), or not wearing natural hairstyles (P = 0.0098) had higher odds of remaining stable. Clinical characteristics, concurrent medical conditions, and hair care practices may affect clinical outcomes after treatment. With this information, providers can adjust proper therapies and evaluations for patients with Central centrifugal cicatricial alopecia.Publication 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, EliCentral 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.