遗传性皮肤病
医学
Wiskott-Aldrich综合征
特应性皮炎
原发性免疫缺陷
皮肤病科
免疫失调
背景(考古学)
免疫学
肠病
湿疹性皮炎
疾病
病理
免疫系统
遗传学
古生物学
基因
生物
作者
Chaolan Pan,Anqi Zhao,Ming Li
出处
期刊:Diagnostics
[MDPI AG]
日期:2022-09-09
卷期号:12 (9): 2177-2177
被引量:5
标识
DOI:10.3390/diagnostics12092177
摘要
Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, STAT5B deficiency, Omenn syndrome, atypical complete DiGeorge syndrome; metabolic disorders such as acrodermatitis enteropathy, multiple carboxylase deficiency, prolidase deficiency; and other rare syndromes like severe dermatitis, multiple allergies and metabolic wasting syndrome, Netherton syndrome, and peeling skin syndrome frequently perform with eczema-like lesions. These genodermatosis may be misguided in the context of eczematous phenotype. Misdiagnosis of severe disorders unavoidably affects appropriate treatment and leads to irreversible outcomes for patients, which underlines the importance of molecular diagnosis and genetic analysis. Here we conclude clinical manifestations, molecular mechanism, diagnosis and management of several eczema-related genodermatosis and provide accessible advice to physicians.
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