Autoimmune polyglandular syndrome type 1 in a 12-year-old Ugandan girl

Abstract

Autoimmune polyglandular syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasisectodermal dystrophy syndrome, is a very rare disorder of childhood. It is mainly characterised by the presence of at least two of the following: chronic mucocutaneous candidiasis, chronic hypoparathyroidism and autoimmune Addison's disease. We report on the case of a 12-year-old Ugandan female patient who presented with features that were most consistent with APS-1 (chronic mucocutaneous candidiasis and hypoparathyroidism). Significant clinical improvement was noted following oral antifungal therapy.