Management of squamous cell cancer of the oesophagus in a patient with a polyglandular endocrinopathy (APECED) and achalasia.

INTRODUCTION

We report a case of a 37-year-old man, with a background of a rare polyglandular autoimmune syndrome and achalasia, who developed an oesophageal tumour. Both autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or type I polyglandular syndrome and achalasia confer increased risk of development of oesophageal squamous cell carcinoma.

METHODS

Despite having had multiple endoscopic examinations and dilatations in the recent past, this patient presented with dysphagia, and on endoscopy, he was found to have a mid-oesophageal tumour. A multidisciplinary team approach was vital in his management as careful monitoring of underlying disorders including Addison's disease and hypoparathyroidism were challenging during neoadjuvant chemoradiotherapy and in the perioperative period.

RESULTS

He made an uneventful recovery after a three-stage oesophagectomy, and histologically, he had a complete pathological response.

CONCLUSION

To our knowledge, this is the first successful outcome of a patient with APECED and oesophageal carcinoma in the literature.