Thayer Hamoudah, MD, Jaimin Amin, MD, MS; Rush University Medical Center, Chicago, IL
Introduction: Mucous membrane pemphigoid (MMP) rarely presents with esophageal involvement [1-3]. We present a case of a 57 year old man who was evaluated for acute onset dysphagia and severe hematemesis. He denied any caustic ingestion. EGD revealed severe esophageal mucosal injury with bleeding, mucosal sloughing with exposure of the submucosal layers, and mid-esophageal narrowing. Biopsies were non-diagnostic. Physical exam revealed erythematous plaques and few bullae on his extremities. Shave biopsies were positive for linear basement membrane (BM) immunofluorescent staining, consistent with MMP. Serum ELISA was positive for Anti-BP180 Ab, which along with the clinical presentation, confirmed the diagnosis of MMP. The patient was started on corticosteroids and mycophenolate mofetil with resolution of his symptoms and evidence of mucosal healing on repeat EGD.
Methods: MMP with esophageal involvement typically presents with longstanding dysphagia due to esophageal strictures that often require dilation. In this atypical case, the patient developed acute dysphagia and hematemesis. EGD revealed an esophageal stricture which was not traversed initially given sloughing mucosa and concern for causing perforation. Fortunately, there was no apparent stricture on repeat EGD done after immunosuppressive therapy was started. Establishing a diagnosis of MMP is essential as treatment requires systemic immunosuppression [1,4]. Esophageal biopsies with direct immunofluorescence (DIF) is the gold standard for diagnosis, but biopsies are frequently inconclusive [2,5]. Therefore, both lesional and perilesional biopsies are recommended for histologic and DIF staining, respectively [2,6]. Indirect immunofluorescence (IIF) and serum ELISA testing can help distinguish MMP from other entities . Anti-BP180 Ab was elevated in our patient and down-trended with immunosuppression. Other more specific IIF tests can help distinguish MMP from bullous pemphigoid. Discussion: MMP involving the esophagus should be considered for patients with unexplained hematemesis or dysphagia, particularly when presenting with mucosal sloughing or strictures. The diagnosis is made with the combination of clinical assessment, histopathology and specialized testing. A high index of suspicion is required to make the diagnosis given that biopsies are often inconclusive. This case stresses the significance of a thorough physical exam and the importance of obtaining lesional and perilesional biopsies to establish a diagnosis of MMP.
Disclosures: Thayer Hamoudah indicated no relevant financial relationships. Jaimin Amin indicated no relevant financial relationships.