Hipoplazija sklenine kot znak avtoimunske poliendokrinopatije-kandidiaze-ektodermalne distrofije
Dental enamel hypoplasia as a presenting sign of autoimmune polyendocrinopathy with candidiasis-ectodermal dystrophy : a case report : prikaz kliničnega primera

slovenian

2020

volume 27, issue 1

Društvo za pomoč otrokom s presnovnimi motnjami
(Obvezni izvod spletne publikacije)

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.

14.01.2025