Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1

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http://hdl.handle.net/10138/240218

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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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