AUTHOR=Bruserud Øyvind , Costea Daniela-Elena , Laakso Saila , Garty Ben-Zion , Mathisen Eirik , Mäkitie Antti , Mäkitie Outi , Husebye Eystein S. 

TITLE=Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1

JOURNAL=Frontiers in Endocrinology

VOLUME=9

YEAR=2018

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2018.00463

DOI=10.3389/fendo.2018.00463

ISSN=1664-2392

ABSTRACT=<p>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or Autoimmune polyendocrine syndrome type-1 (APS-1) (APECED, OMIM <ext-link ext-link-type="DDBJ/EMBL/GenBank" xlink:href="240300" xmlns:xlink="http://www.w3.org/1999/xlink">240300</ext-link>) is a rare, childhood onset, monogenic disease caused by mutations in the <italic>Autoimmune Regulator</italic> (<italic>AIRE</italic>) gene. The overall mortality is increased compared to the general population and a major cause of death includes malignant diseases, especially oral and esophageal cancers. We here present a case series of four APS-1 patients with oral tongue cancers, an entity not described in detail previously. Scrutiny of history and clinical phenotypes indicate that chronic mucocutaneous candidiasis and smoking are significant risk factors. Preventive measures and early diagnosis are important to successfully manage this potentially fatal disease.</p>