Lea Regoršek Vrabec
Dispanzer za otroke, Zdravstveni dom Šmarje pri Jelšah, Šmarje pri Jelšah, Slovenija

Tina Leban
Katedra za otroško in preventivno zobozdravstvo, Medicinska fakulteta, Ljubljana, Slovenija

Katarina Trebušak Podkrajšek
Medicinska fakulteta, Univerza v Ljubljani in Služba za specialno laboratorijsko diagnostiko, Pediatrična klinika, Ljubljana, Slovenija

Nataša Bratina
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana in Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Sara Bertok
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Alenka Pavlič
Katedra za otroško in preventivno zobozdravstvo, Medicinska fakulteta, Univerza v Ljubljani in Center za otroško in preventivno zobozdravstvo, Stomatološka klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Magdalena Avbelj Stefanija
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana

Abstract

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare monogenic disor- der caused by pathological genetic alterations in the AIRE gene, which encodes a protein autoimmune regulator, which is implicated in the regulation of immune tolerance to autoantigens. Individuals with the APECED syndrome can develop a diverse clinical picture characterised by organ-specific auto- immune manifestations, ectodermal dystrophy and spe- cific immune defects associated with the development of autoantibodies against interferons and interleukins. The diagnosis of APECED should be considered if two out of three main criteria are present: chronic mucocutaneous can- didiasis, hypoparathyroidism and Addison disease. In the article, the case of a patient with this rare syndrome who presented initially with candidal infection of the nails and then with typical manifestations of enamel hypoplasia of the permanent teeth, is described. On the basis of the ecto- dermal presentation, the clinical suspicion of the APECED syndrome was made, even before the clinical signs of Addi- son’s disease appeared. Early diagnosis and treatment pre- vented the development of an Addisonian crisis.

Key words: Autoimmune polyendocrinopathy with can- didiasis and ectodermal dystrophy (APECED), autoimmune, mucocutaneous candidiasis, hypoparathyroidism, Addison’s disease, enamel hypoplasia