Bruserud Øyvind, Costea Daniela-Elena, Laakso Saila, Garty Ben-Zion, Mathisen Eirik, Mäkitie Antti, Mäkitie Outi, Husebye Eystein S
Department of Clinical Science, University of Bergen, Bergen, Norway.
K.G. Jebsen Centre for Autoimmune Disorders, University of Bergen, Bergen, Norway.
Front Endocrinol (Lausanne). 2018 Aug 17;9:463. doi: 10.3389/fendo.2018.00463. eCollection 2018.
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 () 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.
自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）或自身免疫性多内分泌综合征1型（APS-1）（APECED，OMIM 240300）是一种罕见的、儿童期起病的单基因疾病，由（）基因突变引起。与普通人群相比，总体死亡率有所增加，主要死因包括恶性疾病，尤其是口腔癌和食管癌。我们在此报告一组4例患有口腔舌癌的APS-1患者病例系列，这是一个此前未详细描述的实体。对病史和临床表型的仔细研究表明，慢性黏膜皮肤念珠菌病和吸烟是重要的危险因素。预防措施和早期诊断对于成功管理这种潜在致命疾病很重要。
