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慢性黏膜皮肤念珠菌病:一例报告

Chronic Mucocutaneous Candidiasis: A Case Report.

作者信息

Wang Zhensheng, Zhang Yongfeng, Ma Weiyuan

机构信息

Department of Pediatrics, Affiliated Hospital of Weifang Medical University, Weifang, People's Republic of China.

Department of Dermatology, Affiliated Hospital of Weifang Medical University, Weifang, People's Republic of China.

出版信息

Clin Cosmet Investig Dermatol. 2023 Jan 25;16:231-236. doi: 10.2147/CCID.S396802. eCollection 2023.


DOI:10.2147/CCID.S396802
PMID:36721837
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9884432/
Abstract

Chronic mucocutaneous candidiasis (CMC) is a rare infectious skin disease. This study reported a case of CMC in a child with clinical manifestations of oral mucosal leukoplakia and erythema and crust-like thick scabs on the skin of the face and upper limbs. Microscopic fungal examination revealed a large amount of pseudohyphae, and the fungal culture indicated . A drug sensitivity test indicated that it was sensitive to itraconazole and nystatin. Laboratory tests did not show significant immunodeficiency or endocrine abnormalities, and gene sequencing did not identify DNA gene mutations in the coiled-coil domain (CCD) or the DNA-binding domain (DBD) of signal transducer and activator of transcription 1 (STAT1). The skin lesions subsided after oral administration of itraconazole but relapsed 6 months later, and hypoparathyroidism occurred 1 year later. Patients with repeated superficial fungal infection should be alert to the possibility of CMC. CMC has numerous complications and a poor prognosis that requires the attention of clinicians. In this case, STAT1 mutation was not found, and parathyroid dysfunction was rare, providing reference for clinical diagnosis and treatment of CMC.

摘要

慢性黏膜皮肤念珠菌病(CMC)是一种罕见的感染性皮肤病。本研究报告了1例患有CMC的儿童病例,其临床表现为口腔黏膜白斑、红斑以及面部和上肢皮肤出现痂样厚痂。显微镜下真菌检查发现大量假菌丝,真菌培养显示……药敏试验表明其对伊曲康唑和制霉菌素敏感。实验室检查未显示明显的免疫缺陷或内分泌异常,基因测序未发现信号转导和转录激活因子1(STAT1)的卷曲螺旋结构域(CCD)或DNA结合结构域(DBD)存在DNA基因突变。口服伊曲康唑后皮肤病变消退,但6个月后复发,1年后发生甲状旁腺功能减退。反复发生浅表真菌感染的患者应警惕CMC的可能性。CMC有众多并发症且预后较差,需要临床医生关注。在该病例中,未发现STAT1突变,甲状旁腺功能障碍罕见,为CMC的临床诊断和治疗提供了参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d81/9884432/434cf8133fbe/CCID-16-231-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d81/9884432/3ccb5cd8d8c1/CCID-16-231-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d81/9884432/434cf8133fbe/CCID-16-231-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d81/9884432/3ccb5cd8d8c1/CCID-16-231-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d81/9884432/434cf8133fbe/CCID-16-231-g0002.jpg

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引用本文的文献

[1]
Chinese Chronic Mucocutaneous Candidiasis: A Case Report Series.

Infect Drug Resist. 2024-5-10

本文引用的文献

[1]
Single-cell RNA sequencing combined with whole exome sequencing reveals the landscape of the immune pathogenic response to chronic mucocutaneous candidiasis with STAT1 GOF mutation.

Front Immunol. 2022

[2]
Immunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis.

Front Immunol. 2022

[3]
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors.

J Clin Immunol. 2023-1

[4]
Efficacy of Cochleated Amphotericin B in Mouse and Human Mucocutaneous Candidiasis.

Antimicrob Agents Chemother. 2022-7-19

[5]
High incidence of azole resistance among and isolates in Northeastern Iran.

Curr Med Mycol. 2021-9

[6]
Case Report: A New Gain-of-Function Mutation of Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association.

Front Immunol. 2021

[7]
Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.

Pediatr Allergy Immunol. 2021-11

[8]
Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.

Front Immunol. 2021

[9]
Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2.

J Clin Immunol. 2019-7-10

[10]
Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation.

J Clin Immunol. 2018-12-13

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