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Published on: September 20, 2018
Early-onset hypoparathyroidism and chronic keratitis revealing APECED
Ellia Mezgueldi1, Aurélia Bertholet-Thomas1, Solange Milazzo2
1Pediatric Nephrology, Rheumatology, Dermatology Unit, Femme Mère Enfant Hospital, Hospices Civils de Lyon, University Lyon I Lyon, France.
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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