case_images: PMC11810973_01
case_images: Summary of laboratory findings. (A) Serum protein electrophoresis before treatment. (B) Flow cytometry analysis of bone marrow showing 0.03% monoclonal B cells, expressing CD38, CD138, CD81, CD27, CD45, and cytoplasmic kappa light chain, with no expression of CD19, CD56, CD117, or cytoplasmic lambda light chain. (C) Computed tomography scans demonstrating osteosclerotic bone lesions. (D) Cutaneous biopsy revealing perivascular infiltration of neutrophils, consistent with neutrophilic dermatosis, without evidence of vasculitis.
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case_images: Serum protein electrophoresis demonstrated the presence of IgMkappa monoclonal gammopathy ( Figure 1A ). No abnormality was detected on lymphocyte immunophenotyping, excluding a diagnosis of LPL/WM ( Figure 1B ). Imaging showed osteosclerotic bone lesions ( Figure 1C ). Skin biopsy showed perivascular infiltration of neutrophils, without vasculitis change, consistent with neutrophilic dermatosis ( Figure 1D ).
case_images: Clinical manifestations and laboratory findings after four cycles of VD treatment. (A) Venn diagram illustrating no overlap between 32 autoinflammatory genes and the patient's gene mutations. (B) Protein interaction network constructed using the STRING online tool, with GO enrichment analysis identifying associations of aberrant genes (PRDM16, KLF4, TP73, BCL2, HIF1A, and CHD4) with DNA-binding transcription factor and NF-kappaB binding activity. (C) Inflammatory cytokine levels at different therapeutic time points. Initial levels of IL-6, IL-8 and INF-gamma were elevated at diagnosis, but returned to normal after four cycles of VD treatment. (D) Clinical presentation of the patient before and after four treatment cycles. (E) Serum CRP and IgM levels showing significant reductions after treatment. (F) Quality of life (QoL) survey results before starting VD and after four treatment cycles. A statistically significant improvement in all domains was observed (a change of 10 points or more is considered clinically significant). BP, bodily pain; RP, role physical; PF, physical function; MH, mental health; RE, role emotional; SF, social function; VT, vitality; GH, general health.
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case_images: Analysis of the 32 genes showed no mutations in TNFRSF1A, NOD2, or NLRC4 (genes associated with dominant autoinflammatory diseases with rash) and did not identify common susceptibility factors for SchS ( Figure 2A ). Gene Ontology (GO) enrichment analysis of aberrant genes (PRDM16, KLF4, TP73, BCL2, HIF1A, and CHD4) indicated associations with DNA-binding transcription factor and NF-kappaB binding activity ( Figure 2B ). In order to distinguish between SchS and VEXAS, we further tested for UBA1 mutation, and the result indicated negative ( Figure 2A ). At disease onset, the levels of IL-6, IL-8, and INF-gamma were elevated, with 45.12 pg/ml, 73.5 pg/ml, and 7.31 pg/ml, respectively, as indicated in  Figure 2C . Following four cycles of treatment, the patient's urticarial rash resolved completely ( Figure 2D ), and serum levels of lgM and CRP showed marked declines ( Figure 2E ), and there were moderate declines in the levels of serum CRP (27.1 mg/L) and IgM (2.83 g/L). These declines of IL-6 and CRP correspond to the patient's improving condition ( Figure 2C ). At the four-month follow-up, the patient's responses were accompanied by improved quality of life (QoL) ( Figure 2F ).