Fatal Esophageal Squamous Cell Carcinoma at a Young Age as a Complication of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Abstract

ABSTRACT Objective: To report a rare case of esophageal squamous cell carcinoma (SCC) complicated by chronic mucocutaneous candidiasis (CMC) in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) to increase awareness of this association and to optimize CMC control in an effort to prevent this fatal complication. Methods: We report a case of fatal esophageal SCC in a young patient with APECED and CMC and the literature pertaining to this association. Results: A 34-year-old female with known APECED and oral CMC diagnosed in infancy presented with a 4-week history of progressive dysphagia and odynophagia on a background history of reflux esophagitis. Esophagogastroscopy revealed a diffusely necrotic esophagus with exudates. Biopsy revealed a poorly differentiated SCC and fungal spores compatible with Candida species. She was treated with micafungin for 4 weeks. Repeat endoscopy and biopsy confirmed esophageal SCC. The initial metastatic work-up was negative; however, she p...