Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome ( APECED ) : report on three cases from Southern Italy Brief report

Autoimune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED; OMIM 240300), or Autoimmune Polyglandular Syndrome Type 1 (APS I) is a rare autosomal recessive disorder with high penetrance, characterized by a variable combination of destructive autoimmune phenomena (1, 2) and caused by a number of different mutations in the autoimmune regulator (AIRE) gene, which maps to 21q22.3 (2). Endocrine glands are mainly affected, in association with chronic mucocutaneous candidiasis; therefore the progression of the disease will lead to variable degrees of failure of parathyroid glands, adrenal cortex, gonads, pancreatic betacells, thyroid, gastric parietal cells. Non-endocrine less frequently associated conditions are represented by malabsorption, chronic active hepatitis, gastric parietal cell atrophy, and pernicious anemia. The most characteristic ectodermal manifestations are dental enamel hypoplasia, pitted nail dystrophy, alopecia, keratopathy, and vitiligo. Two of the classical triad of symptoms (hypoparathyroidism, mucocutaneous candidiasis, adrenocortical insufficiency) are required for the diagnosis (4). Segregation has been reported in some ethnic groups: the Finnish population has the highest report of patients, (about 1:25.000 inhabitants) (5, 6), followed by Iranian Jews (1:9000) (7) and Norvegian population (8). A small group of patients has been reported in Italy to date, mainly in Sardinia (1:14000 inhabitants) (9), the Salento area in the Puglia region in Southern Italy (10) and the Veneto region in Northern Italy (1). Only one affected family has been reported in Central Italy (11). We report here three newly diagnosed patients affected by the classic clinical features of the disease (from two families originating from Southern Italy), in which mutations in the AIRE gene were found.