1760 A Tough to Swallow Diagnosis: Dysphagia as a Manifestation of Esophageal Pemphigus

Abstract

INTRODUCTION: Pemphigus is a rare group of autoimmune blistering disorders that affect mucous membranes and skin via acantholysis triggered by binding of circulating IgG autoantibodies to intercellular adhesion molecules. Pemphigus vulgaris (PV) is the most common, although paraneoplastic pemphigus in association with lymphoproliferative disorders exists as well. The esophagus is an uncommon site of involvement, but if present, may cause dysphagia and odynophagia or rarely, hematemesis. CASE DESCRIPTION/METHODS: A 76-year old man with a history of stable PV maintained on chronic steroids presented with several months of dysphagia with new oral ulcerations and bullous lesions on his upper and lower extremities. Patient also had a history of stage IIB (T2N1) squamous cell carcinoma of the distal esophagus. He underwent neoadjuvant chemotherapy and radiation with subsequent esophagectomy 2 years ago. Surveillance CT Chest/Abdomen/Pelvis immediately prior to admission showed no evidence of metastatic disease. Given dysphagia and history of esophageal cancer, patient underwent EGD, which revealed desquamating areas of the esophagus. Two small nodules in the areas of desquamation were biopsied. The esophageal biopsies were notable for squamous esophageal mucosa showing “denuded upper epithelial layers leaving one to several layers of suprabasal keratinocytes at the surface. The remaining keratinocytes show loss of cohesion consistent with involvement by the patient’s pemphigus.” New skin lesions continued to appear, most notably on the patient’s right hand. Biopsy of the skin lesion on his right thumb revealed PV, but it was noted that paraneoplastic pemphigus could not be excluded. DISCUSSION: Esophageal involvement of pemphigus is a rare finding in an already rare disease. It may be misdiagnosed or missed altogether if not on the differential. The presentation of dysphagia with concomitant oral ulcerations in a patient with a history of pemphigus should be further explored with EGD. Biopsies, brushings, and immunofluorescence of esophageal tissue will aid in diagnosis. Prognosis is poor despite therapy in refractory pemphigus, with mortality as high as 70-80% in 2 years. Despite high dose steroids, the patient's PV continued to worsen requiring rituximab and IVIG combination therapy as well as plasmapheresis.