Early-onset hypoparathyroidism and chronic keratitis revealing APECED.

Abstract

Early diagnosis of potentially life-threatening autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in children who have hypoparathyroidism and chronic keratitis, with a past medical history showing a mild and transient Candida infection.

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Authors/Creators:	Mezgueldi, E. Bertholet-Thomas, A. Milazzo, S. Morris, M. Bacchetta, J. Fabien, N. Cochat, P. Weetman, A.P. Kemp, E.H. Belot, A.
Copyright, Publisher and Additional Information:	© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
Keywords:	AIRE; APECED; hypocalcaemia; hypoparathyroidism; keratitis
Dates:	Accepted: 26 August 2015 Published: October 2015
Institution:	The University of Sheffield
Academic Units:	The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield)
Depositing User:	Symplectic Sheffield
Date Deposited:	10 Nov 2015 14:49
Last Modified:	10 Nov 2015 14:49
Published Version:	http://dx.doi.org/10.1002/ccr3.354
Status:	Published
Publisher:	Wiley Open Access
Refereed:	Yes
Identification Number:	https://doi.org/10.1002/ccr3.354
Related URLs:	Author

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Early-onset hypoparathyroidism and chronic keratitis revealing APECED.

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