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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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Detalles Bibliográficos
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
Descripción
Sumario: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.