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Open Access Highly Accessed Case report

A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report

Clodagh S O’Gorman1101129*, Rayzel Shulman129, Irene Lara-Corrales239, Elena Pope239, Margaret Marcon249, Hartmut Grasemann2459, Rayfel Schneider269, Julia Upton279, Etienne B Sochett129, Dror Koltin129 and Eyal Cohen289

Author Affiliations

1 Divisions of Endocrinology, The Hospital for Sick Children, Toronto, Canada

2 Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada

3 Divisions of Dermatology, The Hospital for Sick Children, Toronto, Canada

4 Divisions of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Canada

5 Divisions of Respiratory Medicine, The Hospital for Sick Children, Toronto, Canada

6 Divisions of Rheumatology, The Hospital for Sick Children, Toronto, Canada

7 Divisions of Immunology, The Hospital for Sick Children, Toronto, Canada

8 Divisions of Pediatric Medicine, The Hospital for Sick Children, Toronto, Canada

9 University of Toronto, Toronto, Canada

10 Current affiliation is Department of Paediatrics, Graduate Entry Medical School, University of Limerick, and University Hospital, Limerick, Ireland

11 Graduate Entry Medical School, University of Limerick, Limerick, Ireland

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Journal of Medical Case Reports 2013, 7:44  doi:10.1186/1752-1947-7-44

Published: 14 February 2013

Abstract

Introduction

Common features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia include candidiasis, hypoparathyroidism and hypoadrenalism. The initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may be autoimmune hepatitis, keratoconjunctivitis, frequent fever with or without a rash, chronic diarrhea, or different combinations of these with or without oral candidiasis.

Case presentation

We discuss a profoundly affected 2.9-year-old Caucasian girl of Western European descent with a dramatic response to immunosuppression (initially azathioprine and oral steroids, and then subsequently mycophenolate mofetil monotherapy). At four years of follow-up, her response to mycophenolate mofetil is excellent.

Conclusion

The clinical features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may continue for years before some of the more common components appear. In such cases, it may be life-saving to diagnose autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia and commence therapy with immunosuppressive agents. The response of our patient to immunosuppression with mycophenolate mofetil has been dramatic. It is possible that other patients with this condition might also benefit from immunosuppression.

Keywords:
APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia); APS (autoimmune polyendocrinopathy syndrome); Autoimmunity; Immunosuppression; Endocrinopathies