APECED syndrome in a child with early presentation of type I diabetes mellitus

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease characterized by autoimmune destruction of endocrine glands, chronic superficial candidiasis, and ectodermal dystrophies including hypoplasia of the dental enamel, alopecia and nail dystrophy. Insulin dependent diabetes mellitus (IDDM) occurs uncommonly in type I polyglandular autoimmune syndrome. A boy, aged two years and 6 months, presented with growth failure, weight loss, alopecia and breath holding attacks. Physical examination revealed alopecia totalis, absence of eyelashes, nail dystrophy on all of his fingers and toes, onycomycosis, dysplastic teeth with a number of caries, genital dermatitis, and hyperpigmented areas around umbilicus. He was treated with oral iron, zinc, and multi-vitamin supplementation, anti-candidal preparations and a balanced diet. He did well with this treatment, but six months later he developed type I diabetes mellitus. Here we describe the characteristics of APECED syndrome and its association with IDDM, a rarely seen endocrinopathy with an early onset in this case.