Browsing by Author "McMichael, Amy"
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Item Do not forget to check the scalp in systemic light-chain amyloidosis(2021) Larrondo, Jorge; Gosch, Marianne; Pena, Camila; Cabrera, Raúl; Jeraldo, Cecilia; Castro, Alex; McMichael, AmySystemic light chain amyloidosis (AL) is a nonproliferative plasma cell disorder in which fragments of immunoglobulin deposit in tissues. Clinical manifestations are often nonspecific, making diagnosis challenging.Biopsy of involved organs is the gold standard to confirm the diagnosis; however, internal organ biopsy may beunsafe because of a significant risk of bleeding.1 New techniques to improve diagnosis are needed.Publication Evaluating the Cost Burden of Alopecia Areata Treatment: A Comprehensive Review for Dermatologists(2024) Patel, Palak; Coello, Angelica; Larrondo Gálvez, Jorge Felipe; McMichael, AmyAlopecia areata (AA) is managed with prolonged medical treatments and cosmetic therapies, whose cost can be burdensome. We sought to identify the costs of AA treatment and consolidate the available data for the practicing dermatologist by performing a PubMed search of articles indexed for MEDLINE. Ten studies including approximately 16,000 patients with AA across a range of Oxford Centre for Evidence-Based Medicine Levels of Evidence were included. Studies showed that despite the limited efficacy of many AA therapies, patients incurred substantial expenses to manage their AA.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.