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Early‐onset hypoparathyroidism and chronic keratitis revealing APECED
Authors:Ellia Mezgueldi  Aurlia Bertholet‐Thomas  Solange Milazzo  Michael Morris  Justine Bacchetta  Nicole Fabien  Pierre Cochat  Anthony P Weetman  Elizabeth Helen Kemp  Alexandre Belot
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.
Keywords:   AIRE        APECED     hypocalcaemia  hypoparathyroidism  keratitis
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