case_images: PMC8385714_01
case_images: CT scan of the esophageal mass showing asymmetrical neoplastic wall thickening, extending from the lower third of esophagus to the cardia (white arrow in axial view and red arrows in sagittal and coronal views). The mass caused esophageal stenosis without dilatation of the upstream lumen.
case_images: fmed-08-708284-g0001.jpg
case_images: PMC8385714_01_fmed-08-708284-g0001.jpg
case_images: F1
case_images: PET/CT scan confirmed the presence of a lesion 3 cm in diameter, highlighting metabolic activity areas corresponding only to tumor location, without nodal or distant metastasis (Figure 1). Previously, the chest RX and abdominal ultrasound conducted as screening for immunosuppressive treatments 2 years before were unremarkable, as well as the routine blood tests performed at that time. In order to rule out paraneoplastic pemphigus (PNP), blood samples were collected for indirect immunofluorescence (IIF) on rat bladder and normal human skin and immunoblot for anti-plakin and anti-desmocollin autoantibodies, which resulted negative (Figure 2; Supplementary Figures 1-3).
case_images: Results of immunoblot analysis on patient serum collected on week 7 (timepoint corresponding to the tumor diagnosis). The probe of the patient showed positivity for the 130-kDa band, corresponding to anti-DSG3 antibodies. No bands corresponding to anti-desmoplakin (anti-DSP I-II), anti-envoplakin (anti-EVPL), anti-periplakin (anti-PPL), or other autoantibodies specific for paraneoplastic pemphigus were detected in the analyzed serum. Double lanes for each serum: the first one corresponds to epidermal extracts prepared with 6 M urea, and the second one was for that prepared with 1% SDS.
case_images: fmed-08-708284-g0002.jpg
case_images: PMC8385714_01_fmed-08-708284-g0002.jpg
case_images: F2
case_images: In order to rule out paraneoplastic pemphigus (PNP), blood samples were collected for indirect immunofluorescence (IIF) on rat bladder and normal human skin and immunoblot for anti-plakin and anti-desmocollin autoantibodies, which resulted negative (Figure 2; Supplementary Figures 1-3).
case_images: (A-D) Soft blisters and painful erosion affecting the trunk and limbs a few days after the surgical removal of the esophageal mass. (E-H) Residual post-inflammatory hyperpigmentation in sites previously affected by pemphigus lesions at the 4-month follow-up.
case_images: fmed-08-708284-g0003.jpg
case_images: PMC8385714_01_fmed-08-708284-g0003.jpg
case_images: F3
case_images: In order to rule out paraneoplastic pemphigus (PNP), blood samples were collected for indirect immunofluorescence (IIF) on rat bladder and normal human skin and immunoblot for anti-plakin and anti-desmocollin autoantibodies, which resulted negative (Figure 2; Supplementary Figures 1-3). At the 4-month dermatologic follow-up, only post-inflammatory hyperpigmentation or hypopigmentation was detectable, with no active lesions (Figure 3), while the last enzyme-linked immunosorbent assay (ELISA) performed resulted in lower anti-desmoglein autoantibody concentrations.
case_images: Graph showing the trend of Pemphigus Disease Activity Index score and anti-desmoglein serum titer. Week 0 is considered the time of onset of gastrointestinal symptoms. Week 4: clinical worsening and increase in anti-desmoglein titers. Week 7: diagnosis of esophageal mass. Week 9: end of the first IvIG cycle. Week 13: end of the second IvIG cycle. Week 16: first rituximab infusion. Week 19: end of rituximab therapy. Week 21: start of prednisone, 0.6 mg/kg/day. Week 23: clinical follow-up and re-assessment of anti-desmoglein titers. The titers seemed to predict the clinical worsening of the disease, which remained stable during the period of IvIG infusions. The worsening following the surgical intervention showed a prompt response to rituximab. The timing of single treatments is indicated above.
case_images: fmed-08-708284-g0004.jpg
case_images: PMC8385714_01_fmed-08-708284-g0004.jpg
case_images: F4
case_images: The anti-DSG1 and anti-DSG3 titers likewise decreased progressively (Figure 4).