Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
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...
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MDPI AG
2024-01-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/12/1/132 |
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| author | Florica Sandru Razvan-Cosmin Petca Mihai Cristian Dumitrascu Aida Petca Andreea-Iuliana Ionescu (Miron) Livia-Cristiana Baicoianu-Nitescu |
| author_facet | Florica Sandru Razvan-Cosmin Petca Mihai Cristian Dumitrascu Aida Petca Andreea-Iuliana Ionescu (Miron) Livia-Cristiana Baicoianu-Nitescu |
| author_sort | Florica Sandru |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T09:56:58Z |
| format | Article |
| id | doaj.art-865a1750665d4753a2cd8a09ab8ea836 |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-08T09:56:58Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-865a1750665d4753a2cd8a09ab8ea8362024-01-29T13:47:25ZengMDPI AGBiomedicines2227-90592024-01-0112113210.3390/biomedicines12010132Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive ReviewFlorica Sandru0Razvan-Cosmin Petca1Mihai Cristian Dumitrascu2Aida Petca3Andreea-Iuliana Ionescu (Miron)4Livia-Cristiana Baicoianu-Nitescu5Department of Dermatovenerology, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, RomaniaDepartment of Urology, “Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, RomaniaDepartment of Obstetrics and Gynecology, “Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, RomaniaDepartment of Obstetrics and Gynecology, “Carol Davila” University of Medicine and Pharmacy, 050474 Bucharest, RomaniaDepartment of Oncological Radiotherapy and Medical Imaging, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, RomaniaDepartment of Dermatovenerology, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, RomaniaAutoimmune 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.https://www.mdpi.com/2227-9059/12/1/132APS-1APECEDmucocutaneous candidiasisvitiligoalopecia areatacutaneous manifestations |
| spellingShingle | Florica Sandru Razvan-Cosmin Petca Mihai Cristian Dumitrascu Aida Petca Andreea-Iuliana Ionescu (Miron) Livia-Cristiana Baicoianu-Nitescu Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines APS-1 APECED mucocutaneous candidiasis vitiligo alopecia areata cutaneous manifestations |
| title | Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review |
| title_full | Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review |
| title_fullStr | Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review |
| title_full_unstemmed | Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review |
| title_short | Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review |
| title_sort | cutaneous manifestations in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy apeced a comprehensive review |
| topic | APS-1 APECED mucocutaneous candidiasis vitiligo alopecia areata cutaneous manifestations |
| url | https://www.mdpi.com/2227-9059/12/1/132 |
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