Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation.

Abstract excerpt

OBJECTIVE: To report a patient with an unusual presentation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and severe keratopathy. CASE HISTORY: An Egyptian male sustained an injury to the left eye at 13 years of age and was found to have corneal damage which was attributed to the injury. Subsequently, however, he continued to have sore eyes with photophobia. A year later he became...

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