Abstract
Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder characterized by autoimmune multiorgan dysfunction. The major components of APS type 1 are chronic mucocutaneous candidiasis,hypoparathyroidism and Addisons disease.To establish this syndrome, at least two of these conditions have to be present. We report here one of such case, a 15-year old boy who presented with features of chronic mucocutaneous candidiasis, hypoparathyroidism, primary hypothyroidism,nail dystrophy and dental enamel hypoplasia that were consistent with APS-1.DOI: http://dx.doi.org/10.3329/jom.v15i1.19886 J Medicine 2014; 15: 98-101
Highlights
Autoimmune polyendocrine syndrome type 1 (APS-1), which is termed autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED), is a rare disorder and is inherited in an autosomal recessive fashion, caused by mutations in the autoimmune regulator gene (AIRE) and characterized by the failure of several endocrine glands as well as nonendocrine organs.[1]
The major components of APS type 1 are chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison’s disease. These are collectively called Whitaker’s triad, which is pathognomonic for APS type 1.5 The spectrum of associated minor clinical diseases include primary hypothyroidism, type 1 diabetes, nail dystrophy and dental enamel hypoplasia
The reported patient presented with hypothyroidism for last 11 years, chronic mucocutaneous candidiasis since childhood and features of hypoparathyroidism
Summary
YUSUF ALI,[1] HM RASHIDUZZAMAN,[2] MAHADI MASUD,[3] MD. ABDUL WADUD,[4] SADIA QUADIR,[2] SK.
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