Author/Editor		Regoršek Vrabec, Lea; Leban-Drešček, Tina; Trebušak Podkrajšek, Katarina; Bratina, Nataša; Bertok, Sara; Pavlič, Alenka; Avbelj, Magdalena
Title		Hipoplazija sklenine kot znak avtoimunske poliendokrinopatije-kandidiaze-ektoder-malne distrofije - prikaz kliničnega primera
Translated title		Dental enamel hypoplasia as a presenting sign of autoimmune polyendocrinopathy with candidiasis-ectodermal dystrophy - a case report
Type		članek
Vol. and No.		Letnik 27, št. 1
Publication year		2020
Volume		str. 9-14
ISSN		1318-4423 - Slovenska pediatrija [Združenje pediatrov Slovenije]
Language		slv
Abstract		Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare monogenic disorder 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 autoimmune manifestations, ectodermal dystrophy and specific 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 candidiasis, 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 ectodermal presentation, the clinical suspicion of the APECED syndrome was made, even before the clinical signs of Addison's disease appeared. Early diagnosis and treatment prevented the development of an Addisonian crisis.
Keywords		mucocutaneous candidiasis hypoparathyroidism enamel hypoplasia mukokutana kandidiaza hipoparatiroidizem hipoplazija sklenine