Esophageal Tear with Pneumomediastinum Secondary to Esophageal Candidiasis in a Patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)

Abstract

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a rare condition that diffusely affects many organ systems. Chronic mucocutaneous candidiasis is one of the features of APECED, which needs to be treated and monitored to prevent severe complications. This case demonstrates esophageal structuring and resultant esophageal perforation, in the setting of chronic mucocutaneous candidiasis. Learning Points • Chronic mucocutaneous candidiasis (CMC) can be present without overt esophageal thrush • CMC can result in esophageal lesions causing significant morbidity. • APECED patients with dysphagia should be assessed for chronic candida esophagitis and treated accordingly. • Patients with recurrent candida esophagitis should be considered for intermittent topical and systemic antifungal prophylactic therapy. • Esophageal perforation due to candidiasis is most often seen in the setting of immunocompromised states. Background Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease caused by mutations of the AIRE (autoimmune regulator) genes [1, 2, 6, 7]. It is characterized by the clinical trial of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency [7]. APECED has been reported worldwide, but is more prevalent in some historically- isolated homogeneous populations in Finland (1/25000), Sardinia, and Iranian Jews (1/9000) [7]. APECED is also seen at a lower incidence in Norway, Sweden, Slovenia, Great Britain, Italy, Ireland, and North America [7]. Most patients have CMC from early childhood [2, 3]. Rarely, untreated esophageal candidiasis may lead to complications such as esophageal stricture, rupture and or fistula formation [4, 5].