Bruserud , O , Costea , D-E , Laakso , S , Garty , B-Z , Mathisen , E , Mäkitie , A , Mäkitie , O & Husebye , E S 2018 , ' Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1 ' , Frontiers in Endocrinology , vol. 9 , 463 . https://doi.org/10.3389/fendo.2018.00463
Title: | Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1 |
Author: | Bruserud, Oyvind; Costea, Danieta-Elena; Laakso, Saila; Garty, Ben-Zion; Mathisen, Eirik; Mäkitie, Antti; Mäkitie, Outi; Husebye, Eystein S. |
Contributor organization: | Clinicum Children's Hospital Korva-, nenä- ja kurkkutautien klinikka University of Helsinki Lastentautien yksikkö HUS Children and Adolescents HUS Head and Neck Center |
Date: | 2018-08-17 |
Language: | eng |
Number of pages: | 6 |
Belongs to series: | Frontiers in Endocrinology |
ISSN: | 1664-2392 |
DOI: | https://doi.org/10.3389/fendo.2018.00463 |
URI: | http://hdl.handle.net/10138/240218 |
Abstract: | Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or Autoimmune polyendocrine syndrome type-1 (APS-1) (APECED, OMIM 240300) is a rare, childhood onset, monogenic disease caused by mutations in the Autoimmune Regulator (AIRE) 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. |
Subject: |
Autoimmune polyendocrine syndrome type 1
oral malignancies chronic mucocutaneous candidiasis endocrinology Autoimmune Regulator gene SQUAMOUS-CELL CARCINOMA GENE-EXPRESSION RNA-SEQ CANCER DISEASE CARCINOGENESIS ALCOHOL SMOKING TOBACCO KCNRG 3125 Otorhinolaryngology, ophthalmology 3121 General medicine, internal medicine and other clinical medicine |
Peer reviewed: | Yes |
Rights: | cc_by |
Usage restriction: | openAccess |
Self-archived version: | publishedVersion |
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