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.
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.
Authors: M C Rosatelli; A Meloni; A Meloni; M Devoto; A Cao; H S Scott; P Peterson; M Heino; K J Krohn; K Nagamine; J Kudoh; N Shimizu; S E Antonarakis Journal: Hum Genet Date: 1998-10 Impact factor: 4.132
Authors: John Vincent Reynolds; Cian Muldoon; Donal Hollywood; Narayanasamy Ravi; Suzanne Rowley; Ken O'Byrne; John Kennedy; Thomas J Murphy Journal: Ann Surg Date: 2007-05 Impact factor: 12.969