Paraneoplastic Pemphigus Vulgaris Syndrome with orbital invasion, ectopic pancreas, and severe insulinitis: Autoimmune heterogeneity profile using scRNA-seq
DOI:
https://doi.org/10.70577/ASCE/938.961/2025Keywords:
paraneoplastic pemphigus, paraneoplastic autoimmune multiorgan syndrome, single-cell RNA sequencing, orbital invasiónAbstract
Paraneoplastic pemphigus (PNP) is a highly fatal autoimmune blistering disease associated with underlying neoplasms. Its atypical presentation with orbital involvement, ectopic pancreas, and severe insulinitis constitutes a rare phenotype. This review synthesizes evidence on pathophysiological mechanisms, atypical manifestations, and therapies for PNP, emphasizing autoimmune heterogeneity revealed by single‑cell RNA sequencing (scRNA‑seq). A search was conducted in PubMed, Scopus, Web of Science, and Orphanet. PNP results from an autoimmune response against desmosomal antigens, mediated by antibodies and T cells, leading to acantholysis and multiorgan involvement. scRNA‑seq has revealed enrichment of ITGAL+ T cells, abnormal γδT subtypes, and BCL2+ B cells in bone marrow and peripheral blood, delineating a dynamic immune landscape that explains clinical heterogeneity. Management requires a multidisciplinary approach combining oncological treatment, targeted immunosuppression, and biologic therapies such as rituximab.
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Copyright (c) 2026 Nahomi Phennelope Castro Vásconez , Angie Daniela Beltrán Vera , Sara Nathally Rodríguez Aguinaga , Andrea Lissbeth Sacoto Abad , Doménica Nicolle Flores Ramón
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