儿童慢性皮肤念珠菌病：我们是否应该止步于此？报告两例与自身免疫性多内分泌腺病综合征 I 型相关的病例。
Chronic cutaneous candidiasis in children: should we stop there? Report of two cases associated with auto-immune polyendocrinopathy syndrome type I.
机构信息
Department of Pediatrics, Faculty of Medicine and Biomedical Sciences, University of Yaounde I, Yaounde, Cameroon.
Mother and Child Centre, Chantal Biya's Foundation, Yaounde, Cameroon.
出版信息
BMC Pediatr. 2020 Mar 18;20(1):128. doi: 10.1186/s12887-020-02030-y.
Abstract
BACKGROUND
Auto-immune polyendocrinopathy syndrome type I is a rare genetic disease, usually revealed by chronic superficial candidiasis and autoimmune endocrine dysfunction in childhood.
CASES PRESENTATION
We report the cases of 2 children, a 4 years-11 months old boy and 13 years old adolescent, admitted and followed up in the endocrinology unit of the Mother and Child Centre of Chantal Biya's Foundation for auto-immune polyendocrine syndrome type 1.
CONCLUSION
The occurrence of chronic cutaneous candidiasis in a child should always imply endocrine screening, to exclude auto-immune polyendocrine syndrome type I.
摘要
背景
自身免疫性多内分泌腺病综合征 1 型是一种罕见的遗传性疾病，通常在儿童期表现为慢性浅表性念珠菌病和自身免疫性内分泌功能障碍。
病例介绍
我们报告了在恰塔尔·比娅基金会母婴中心内分泌科就诊并随访的 2 例自身免疫性多内分泌腺病综合征 1 型患儿的病例，分别为 4 岁 11 个月大的男孩和 13 岁的青少年。
结论
儿童慢性皮肤念珠菌病的发生应始终进行内分泌筛查，以排除自身免疫性多内分泌腺病综合征 1 型。
相似文献
1
Chronic cutaneous candidiasis in children: should we stop there? Report of two cases associated with auto-immune polyendocrinopathy syndrome type I.儿童慢性皮肤念珠菌病：我们是否应该止步于此？报告两例与自身免疫性多内分泌腺病综合征 I 型相关的病例。
BMC Pediatr. 2020 Mar 18;20(1):128. doi: 10.1186/s12887-020-02030-y.
2
[Oral diseases in auto-immune polyendocrine syndrome type 1].[1型自身免疫性多内分泌综合征中的口腔疾病]
Presse Med. 2017 Sep;46(9):853-863. doi: 10.1016/j.lpm.2017.05.029. Epub 2017 Jul 3.
3
[The challenge for dermatologists of early APECED diagnosis].[早期自身免疫性多内分泌腺病-念珠菌病-外胚层发育不良综合征（APECED）诊断对皮肤科医生的挑战]
Ann Dermatol Venereol. 2014 Apr;141(4):290-4. doi: 10.1016/j.annder.2014.01.012. Epub 2014 Feb 18.
4
Autoimmune polyendocrine syndrome and thrombocytosis.自身免疫性多内分泌综合征与血小板增多症。
Acta Clin Belg. 2015 Dec;70(6):457-60. doi: 10.1179/2295333715Y.0000000056. Epub 2015 Jul 31.
5
[One case of type 1 auto-immune polyendocrinopathy or APECED].1型自身免疫性多内分泌腺病（或自身免疫性多内分泌腺综合征）1例
Ann Dermatol Venereol. 2010 Dec;137(12):794-8. doi: 10.1016/j.annder.2010.08.014. Epub 2010 Sep 28.
6
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良：来自伊朗的三例报告。
J Pediatr Endocrinol Metab. 2016 Aug 1;29(8):979-83. doi: 10.1515/jpem-2016-0017.
7
Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良综合征的皮肤表现
Br J Dermatol. 2006 Jun;154(6):1088-93. doi: 10.1111/j.1365-2133.2006.07166.x.
8
Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran.自身免疫多内分泌腺病念珠菌病-外胚层营养不良综合征的诊断延迟：伊朗的一例病例报告和文献复习。
Immunol Invest. 2020 Apr;49(3):299-306. doi: 10.1080/08820139.2019.1671451. Epub 2019 Oct 7.
9
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl.一名近亲结婚的希腊女孩因AIRET16M突变导致的自身免疫性多内分泌腺病-念珠菌病-外胚层发育不良综合征（APECED）
J Pediatr Endocrinol Metab. 2011;24(7-8):599-601. doi: 10.1515/jpem.2011.012.
10
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature.1型自身免疫性多内分泌综合征患者的皮肤血管炎：1例报告并文献简要回顾
BMC Pediatr. 2014 Nov 1;14:272. doi: 10.1186/1471-2431-14-272.
引用本文的文献
1
Autoimmune polyendocrine syndrome type 2 in children: a case report and literature review.儿童2型自身免疫性多内分泌综合征：1例病例报告及文献复习
BMC Pediatr. 2025 May 2;25(1):351. doi: 10.1186/s12887-025-05697-3.
2
Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review.自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）的皮肤表现：综述
Biomedicines. 2024 Jan 9;12(1):132. doi: 10.3390/biomedicines12010132.
本文引用的文献
1
Peculiarities of autoimmune polyglandular syndromes in children and adolescents.儿童和青少年自身免疫性多腺体综合征的特点
Acta Biomed. 2017 Oct 23;88(3):271-275. doi: 10.23750/abm.v88i3.5898.
2
[Autoimmune polyendocrine syndrome type 1: clinical features and course in France].[1型自身免疫性多内分泌腺综合征：法国的临床特征与病程]
Bull Acad Natl Med. 2013 Jan;197(1):19-30.
3
Autoimmune polyendocrine syndrome type 1: case report and review of literature.1型自身免疫性多内分泌腺综合征：病例报告及文献复习
Arq Bras Endocrinol Metabol. 2012 Feb;56(1):54-66. doi: 10.1590/s0004-27302012000100009.
4
Defect internalization and tyrosine kinase activation in Aire deficient antigen presenting cells exposed to Candida albicans antigens.暴露于白色念珠菌抗原的Aire缺陷抗原呈递细胞中的缺陷内化和酪氨酸激酶激活。
Clin Immunol. 2006 Dec;121(3):265-73. doi: 10.1016/j.clim.2006.08.005. Epub 2006 Sep 18.
5
[Autoimmune polyendocrinopathies].
Ann Endocrinol (Paris). 2005 Feb;66(1):77-9. doi: 10.1016/s0003-4266(05)81701-9.
6
Autoimmune polyendocrine syndromes.自身免疫性多内分泌综合征
N Engl J Med. 2004 May 13;350(20):2068-79. doi: 10.1056/NEJMra030158.
7
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.撒丁岛自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良患者中的一种常见突变。
Hum Genet. 1998 Oct;103(4):428-34. doi: 10.1007/s004390050846.
8
Detection of candidal antigens in autoimmune polyglandular syndrome type I.自身免疫性多内分泌腺综合征I型中念珠菌抗原的检测
Clin Diagn Lab Immunol. 1996 May;3(3):290-4. doi: 10.1128/cdli.3.3.290-294.1996.
9
Autoimmune polyglandular syndromes.自身免疫性多内分泌腺综合征
Pediatr Ann. 1980 Apr;9(4):154-62.
10
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.68例自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）患者的临床变异情况
N Engl J Med. 1990 Jun 28;322(26):1829-36. doi: 10.1056/NEJM199006283222601.
Zotero 插件