Sandru Florica, Petca Razvan-Cosmin, Dumitrascu Mihai Cristian, Petca Aida, Ionescu Miron Andreea-Iuliana, Baicoianu-Nitescu Livia-Cristiana
Department of Dermatovenerology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Dermatology Department, "Elias" University Emergency Hospital, 011461 Bucharest, Romania.
Biomedicines. 2024 Jan 9;12(1):132. doi: 10.3390/biomedicines12010132.
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.
自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED），或1型多腺体自身免疫综合征（PAS-1/APS-1），是一种罕见的常染色体隐性疾病，与自身免疫调节因子（AIRE）基因突变有关。本综述对APECED的皮肤表现进行了详细分析，重点关注慢性黏膜皮肤念珠菌病（CMC）、斑秃（AA）和白癜风。甲状旁腺功能减退、肾上腺功能不全和CMC的经典三联征是诊断的基石。然而，APECED多样的临床谱，尤其是其皮肤表现，给诊断带来了挑战。CMC通常是早期症状，在不同人群中的患病率有所不同，包括芬兰人群（100%）、爱尔兰人群（100%）、沙特阿拉伯人群（80%）、意大利人群（60-74.7%）、北美人群（51-86%）和克罗地亚人群（57.1%）。同样，AA在不同人群中的患病率也有所不同。白癜风在不同地区的患病率也存在差异。本综述综合了截至2023年10月发表的14项重要英文人体研究的叙述性分析得出的现有知识。此外，本文强调了早期检测和监测的重要性，将皮肤表现作为关键诊断指标。持续的研究和临床警惕对于揭示这种罕见自身免疫综合征的复杂性和改善患者护理至关重要。
