PDF(Pubmed)
Abstract：
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or polyglandular autoimmune syndrome type 1 (PAS-1/APS-1), is a rare autosomal recessive disorder linked to mutations in the autoimmune regulator (AIRE) gene. This review provides a detailed analysis of cutaneous manifestations in APECED, focusing on chronic mucocutaneous candidiasis (CMC), alopecia areata (AA), and vitiligo. The classic triad of hypoparathyroidism, adrenal insufficiency, and CMC serves as a diagnostic cornerstone. However, the varied clinical spectrum of APECED, particularly its cutaneous presentations, poses a diagnostic challenge. CMC, often an early sign, varies in prevalence across populations, including Finnish (100%), Irish (100%), Saudi Arabian (80%), Italian (60-74.7%), North American (51-86%), and Croatian (57.1%) populations. Similarly, AA prevalence varies in different populations. Vitiligo also exhibits variable prevalence across regions. The review synthesizes the current knowledge arising from a narrative analysis of 14 significant human studies published in English up to October 2023. Moreover, this paper underscores the importance of early detection and monitoring, emphasizing cutaneous manifestations as key diagnostic indicators. Ongoing research and clinical vigilance are crucial for unraveling the complexities of this rare autoimmune syndrome and enhancing patient care.
摘要：
自身免疫性多内分泌病-念珠菌病-外胚层营养不良（APECED），或多腺自身免疫综合征1型（PAS-1/APS-1），是一种罕见的常染色体隐性遗传疾病，与自身免疫调节因子（AIRE）基因突变有关。这篇综述详细分析了APECED的皮肤表现，关注慢性粘膜皮肤念珠菌病（CMC），斑秃（AA），和白癜风。甲状旁腺功能减退的经典三联征，肾上腺功能不全,和CMC作为诊断的基石。然而,APECED的不同临床谱，尤其是它的皮肤表现，提出了诊断挑战。CMC,通常是早期的征兆，不同人群的患病率不同，包括芬兰语（100%），爱尔兰人（100%）沙特阿拉伯（80%）意大利（60-74.7%），北美（51-86%），和克罗地亚（57.1％）人口。同样，AA患病率在不同人群中有所不同。白癜风也表现出不同地区的患病率。该评论综合了截至2023年10月以英语发表的14项重要人类研究的叙事分析所产生的当前知识。此外，本文强调了早期发现和监测的重要性，强调皮肤表现为关键诊断指标。持续的研究和临床警惕对于解开这种罕见的自身免疫综合征的复杂性和加强患者护理至关重要。
