Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1
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...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2018-08-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fendo.2018.00463/full |
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| author | Øyvind Bruserud Øyvind Bruserud Daniela-Elena Costea Daniela-Elena Costea Daniela-Elena Costea Saila Laakso Saila Laakso Ben-Zion Garty Ben-Zion Garty Eirik Mathisen Antti Mäkitie Outi Mäkitie Outi Mäkitie Eystein S. Husebye Eystein S. Husebye Eystein S. Husebye |
| author_facet | Øyvind Bruserud Øyvind Bruserud Daniela-Elena Costea Daniela-Elena Costea Daniela-Elena Costea Saila Laakso Saila Laakso Ben-Zion Garty Ben-Zion Garty Eirik Mathisen Antti Mäkitie Outi Mäkitie Outi Mäkitie Eystein S. Husebye Eystein S. Husebye Eystein S. Husebye |
| author_sort | Øyvind Bruserud |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-14T02:17:06Z |
| format | Article |
| id | doaj.art-e9d1c9da8a214594b4bd29db8ba9a22f |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-04-14T02:17:06Z |
| publishDate | 2018-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-e9d1c9da8a214594b4bd29db8ba9a22f2022-12-22T02:18:10ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922018-08-01910.3389/fendo.2018.00463399447Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1Øyvind Bruserud0Øyvind Bruserud1Daniela-Elena Costea2Daniela-Elena Costea3Daniela-Elena Costea4Saila Laakso5Saila Laakso6Ben-Zion Garty7Ben-Zion Garty8Eirik Mathisen9Antti Mäkitie10Outi Mäkitie11Outi Mäkitie12Eystein S. Husebye13Eystein S. Husebye14Eystein S. Husebye15Department of Clinical Science, University of Bergen, Bergen, NorwayK.G. Jebsen Centre for Autoimmune Disorders, University of Bergen, Bergen, NorwayGade Laboratory for Pathology, Haukeland University Hospital, Bergen, NorwayDepartment of Clinical Medicine, University of Bergen, Bergen, NorwayCentre for Cancer Biomarkers, University of Bergen, Bergen, NorwayChildren's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, FinlandFolkhälsan Institute of Genetics, Helsinki, FinlandAllergy and Immunology Clinic, Schneider Children's Medical Center of Israel, Tel Aviv, IsraelSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel0Department of Otolaryngology-Head and Neck Surgery, Østfold Hospital, Sarpsborg, Norway1Department of Otorhinolaryngology, Head and Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, FinlandChildren's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, FinlandFolkhälsan Institute of Genetics, Helsinki, FinlandDepartment of Clinical Science, University of Bergen, Bergen, NorwayK.G. Jebsen Centre for Autoimmune Disorders, University of Bergen, Bergen, Norway2Department of Medicine, Haukeland University Hospital, Bergen, NorwayAutoimmune 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.https://www.frontiersin.org/article/10.3389/fendo.2018.00463/fullAutoimmune polyendocrine syndrome type 1oral malignancieschronic mucocutaneous candidiasisendocrinologyAutoimmune Regulator gene |
| spellingShingle | Øyvind Bruserud Øyvind Bruserud Daniela-Elena Costea Daniela-Elena Costea Daniela-Elena Costea Saila Laakso Saila Laakso Ben-Zion Garty Ben-Zion Garty Eirik Mathisen Antti Mäkitie Outi Mäkitie Outi Mäkitie Eystein S. Husebye Eystein S. Husebye Eystein S. Husebye Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1 Frontiers in Endocrinology Autoimmune polyendocrine syndrome type 1 oral malignancies chronic mucocutaneous candidiasis endocrinology Autoimmune Regulator gene |
| title | Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1 |
| title_full | Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1 |
| title_fullStr | Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1 |
| title_full_unstemmed | Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1 |
| title_short | Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1 |
| title_sort | oral tongue malignancies in autoimmune polyendocrine syndrome type 1 |
| topic | Autoimmune polyendocrine syndrome type 1 oral malignancies chronic mucocutaneous candidiasis endocrinology Autoimmune Regulator gene |
| url | https://www.frontiersin.org/article/10.3389/fendo.2018.00463/full |
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