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BACKGROUND: Systemic lupus erythematosus (SLE), characterized by the production of autoantibodies and widespread deposition of immune complexes, predominantly affects women of childbearing age. More than one-third of SLE patients present ocular manifestations. Choroidal disease is currently not completely understood, and its precise differentiation from central serous chorioretinopathy is rarely achieved. To date, no more than 60 patients with choroidal involvement have been reported. CASE SUMMARY: A 37-year-old Chinese woman experienced decreased visual acuity bilaterally, accompanied by increasing periorbital swelling and severe conjunctival chemosis. Decreased breath sounds in both bases were detected via auscultation, as well as pitting edema in both ankles. SLE and lupus nephritis were diagnosed based on serositis, renal disorder, leukopenia and positive anti-Smith and anti-nuclear antibodies. Lupus choroidopathy was diagnosed based on ocular presentation and imaging. The patient was treated with systemic corticosteroids, spironolactone, hydroxychloroquine (HCQ), mycophenolate mofetil (MMF), and intravenous immunoglobulin. After 4 wk of hospitalization, the patient was discharged. Indocyanine green angiography showed no leakage from choroidal vessels, and ocular coherence tomography detected low amounts of subretinal fluid right before discharge. The patient was prescribed oral methylprednisolone, HCQ, and MMF. Two months after the first visit, ophthalmological examination revealed a visual acuity of 20/20 bilaterally, and SLE disease activity was well controlled; her symptoms disappeared completely. CONCLUSION: Here we presented a case of lupus choroidopathy, successfully treated with systemic corticosteroids, and discussed previously reported cases, focusing on differential diagnosis with a central serous chorioretinopathy.
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BACKGROUND: Lupus erythematosus is an autoimmune disease that causes damage to multiple organs ranging from skin lesions to systemic manifestations. Cutaneous lupus erythematosus (CLE) is a common type of lupus erythematosus (LE), but its molecular mechanisms are currently unknown. The study aimed to explore changes in the gene expression profiles and identify key genes involved in CLE, hoping to uncover its molecular mechanism and identify new targets for CLE. METHOD: We analyzed the microarray dataset (GSE109248) derived from the Gene Expression Omnibus (GEO) database, which was a transcriptome profiling of CLE cutaneous lesions. The differentially expressed genes (DEGs) were identified, and the functional annotation of DEGs was performed with Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses. Protein-protein interaction (PPI) network was also constructed to identify hub genes involved in CLE. RESULT: A total of 755 up-regulated DEGs and 405 down-regulated DEGs were identified. GO enrichment analysis showed that defense response to virus, immune response, and type I interferon signaling pathway were the most significant enrichment items in DEGs. The KEGG pathway analysis identified 51 significant enrichment pathways, which mainly included systemic lupus erythematosus, osteoclast differentiation, cytokine-cytokine receptor interaction, and primary immunodeficiency. Based on the PPI network, the study identified the top 10 hub genes involved in CLE, which were CXCL10, CCR7, FPR3, PPARGC1A, MMP9, IRF7, IL2RG, SOCS1, ISG15, and GSTM3. By comparison between subtypes, the results showed that ACLE had the least DEGs, while CCLE showed the most gene and functional changes. CONCLUSION: The identified hub genes and functional pathways found in this study may expand our understanding on the underlying pathogenesis of CLE and provide new insights into potential biomarkers or targets for the diagnosis and treatment of CLE. Key Points ⢠The bioinformatics analysis based on CLE patients and healthy controls was performed and 1160 DEGs were identified ⢠The 1160 DEGs were mainly enriched in biological processes related to immune responses, including innate immune response, type I interferon signaling pathway, interferon-γ-mediated signaling pathway, positive regulation of T cell proliferation, regulation of immune response, antigen processing, and presentation via MHC class Ib and so on ⢠KEGG pathway enrichment analysis indicated that DEGs were mainly enriched in several immune-related diseases and virus infection, including systemic lupus erythematosus, primary immunodeficiency, herpes simplex infection, measles, influenza A, and so on ⢠The hub genes such as CXCL10, IRF7, MMP9, CCR7, and SOCS1 may become new markers or targets for the diagnosis and treatment of CLE.