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Early-onset hypoparathyroidism and chronic keratitis revealing APECED

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, hypoparat...

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Autores principales: Mezgueldi, Ellia, Bertholet-Thomas, Aurélia, Milazzo, Solange, Morris, Michael, Bacchetta, Justine, Fabien, Nicole, Cochat, Pierre, Weetman, Anthony P, Kemp, Elizabeth Helen, Belot, Alexandre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614645/
https://www.ncbi.nlm.nih.gov/pubmed/26509012
http://dx.doi.org/10.1002/ccr3.354
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author Mezgueldi, Ellia
Bertholet-Thomas, Aurélia
Milazzo, Solange
Morris, Michael
Bacchetta, Justine
Fabien, Nicole
Cochat, Pierre
Weetman, Anthony P
Kemp, Elizabeth Helen
Belot, Alexandre
author_facet Mezgueldi, Ellia
Bertholet-Thomas, Aurélia
Milazzo, Solange
Morris, Michael
Bacchetta, Justine
Fabien, Nicole
Cochat, Pierre
Weetman, Anthony P
Kemp, Elizabeth Helen
Belot, Alexandre
author_sort Mezgueldi, Ellia
collection PubMed
description 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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spelling pubmed-46146452015-10-27 Early-onset hypoparathyroidism and chronic keratitis revealing APECED Mezgueldi, Ellia Bertholet-Thomas, Aurélia Milazzo, Solange Morris, Michael Bacchetta, Justine Fabien, Nicole Cochat, Pierre Weetman, Anthony P Kemp, Elizabeth Helen Belot, Alexandre Clin Case Rep Case Reports 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. John Wiley & Sons, Ltd 2015-10 2015-08-26 /pmc/articles/PMC4614645/ /pubmed/26509012 http://dx.doi.org/10.1002/ccr3.354 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, 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.
spellingShingle Case Reports
Mezgueldi, Ellia
Bertholet-Thomas, Aurélia
Milazzo, Solange
Morris, Michael
Bacchetta, Justine
Fabien, Nicole
Cochat, Pierre
Weetman, Anthony P
Kemp, Elizabeth Helen
Belot, Alexandre
Early-onset hypoparathyroidism and chronic keratitis revealing APECED
title Early-onset hypoparathyroidism and chronic keratitis revealing APECED
title_full Early-onset hypoparathyroidism and chronic keratitis revealing APECED
title_fullStr Early-onset hypoparathyroidism and chronic keratitis revealing APECED
title_full_unstemmed Early-onset hypoparathyroidism and chronic keratitis revealing APECED
title_short Early-onset hypoparathyroidism and chronic keratitis revealing APECED
title_sort early-onset hypoparathyroidism and chronic keratitis revealing apeced
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614645/
https://www.ncbi.nlm.nih.gov/pubmed/26509012
http://dx.doi.org/10.1002/ccr3.354
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