Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series
Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (<i>AIRE</i>) gene characterized by complex phenotypic characteristics discovered over years of follow-u...
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MDPI AG
2022-03-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/4/558 |
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| author | Veselin Skrabic Ivna Skrabic Roko Skrabic Blanka Roje Marko Simunovic |
| author_facet | Veselin Skrabic Ivna Skrabic Roko Skrabic Blanka Roje Marko Simunovic |
| author_sort | Veselin Skrabic |
| collection | DOAJ |
| description | Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (<i>AIRE</i>) gene characterized by complex phenotypic characteristics discovered over years of follow-up. Methods: 7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for <i>AIRE</i> R257X mutations. Results: This study group had a mean current age of 25.3 years (age range from 5.4 to 40.2 years), while the mean age at the onset of the disease was 6.5 years (age range from 0.7 to 9.2 years) and with a mean follow-up period of 17.8 years. The overall prevalence of APECED syndrome is estimated to be 1 in 75,000. The most common initial manifestation of the disease was onychodystrophy, while the first major component of APECED syndrome was chronic mucocutaneous candidiasis. Conclusions: APECED is a ‘‘multi-faced’’ disease based on the very unpredictable and inconsistent onset of major components. Furthermore, based on our results, we suggest that onychodystrophy could be included as a warning sign of APECED syndrome. |
| first_indexed | 2024-03-09T10:36:40Z |
| format | Article |
| id | doaj.art-c844156d0d4d4317824ccef550ede206 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T10:36:40Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-c844156d0d4d4317824ccef550ede2062023-12-01T20:56:13ZengMDPI AGGenes2073-44252022-03-0113455810.3390/genes13040558Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case SeriesVeselin Skrabic0Ivna Skrabic1Roko Skrabic2Blanka Roje3Marko Simunovic4Department of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, CroatiaDepartment of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, CroatiaDepartment of Nephrology, University Hospital of Split, Spinciceva 1, 21000 Split, CroatiaLaboratory for Cancer Research, University of Split School of Medicine, Soltanska 2, 21000 Split, CroatiaDepartment of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, CroatiaBackground: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (<i>AIRE</i>) gene characterized by complex phenotypic characteristics discovered over years of follow-up. Methods: 7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for <i>AIRE</i> R257X mutations. Results: This study group had a mean current age of 25.3 years (age range from 5.4 to 40.2 years), while the mean age at the onset of the disease was 6.5 years (age range from 0.7 to 9.2 years) and with a mean follow-up period of 17.8 years. The overall prevalence of APECED syndrome is estimated to be 1 in 75,000. The most common initial manifestation of the disease was onychodystrophy, while the first major component of APECED syndrome was chronic mucocutaneous candidiasis. Conclusions: APECED is a ‘‘multi-faced’’ disease based on the very unpredictable and inconsistent onset of major components. Furthermore, based on our results, we suggest that onychodystrophy could be included as a warning sign of APECED syndrome.https://www.mdpi.com/2073-4425/13/4/558APECEDAPS1hypoparathyroidismAddison’s diseasechronic mucocutaneous candidiasis |
| spellingShingle | Veselin Skrabic Ivna Skrabic Roko Skrabic Blanka Roje Marko Simunovic Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series Genes APECED APS1 hypoparathyroidism Addison’s disease chronic mucocutaneous candidiasis |
| title | Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series |
| title_full | Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series |
| title_fullStr | Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series |
| title_full_unstemmed | Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series |
| title_short | Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series |
| title_sort | clinical characteristics in the longitudinal follow up of apeced syndrome in southern croatia case series |
| topic | APECED APS1 hypoparathyroidism Addison’s disease chronic mucocutaneous candidiasis |
| url | https://www.mdpi.com/2073-4425/13/4/558 |
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