Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1

Show full item record



Permalink

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

Citation

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: University of Helsinki, Clinicum
University of Helsinki, Clinicum
University of Helsinki, Clinicum
Date: 2018-08-17
Language: eng
Number of pages: 6
Belongs to series: Frontiers in Endocrinology
ISSN: 1664-2392
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
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
fendo_09_00463.pdf 1.339Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record