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

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 presented with hypercalcemia of malignancy secondary to bone metastasis 8 weeks later. She died 5 months after the initial diagnosis of SCC due to advanced disease. Conclusion: Our case highlights the risk of developing esophageal SCC at a young age as a fatal complication of CMC associated with APECED. The pathogenicity of SCC in APECED is not well understood, but there are several proposed mechanisms. Increased awareness of this complication among physicians involved in the care of these patients, particularly endocrinologists and gastroenterologists, is essential. Routine surveillance of the oropharynx and esophagus, aggressive control of CMC, and avoidance of extrinsic risk factors (e.g., smoking, alcohol) are critical for prevention. Abbreviations: AIRE autoimmune regulator APECED autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy CMC chronic mucocutaneous candidiasis SCC squamous cell carcinoma