关键词: 特应性皮炎, 单基因遗传病, 屏障缺陷, 免疫缺陷

Abstract: The occurrence and development of atopic dermatitis (AD) is closely related to the impaired skin barrier and immunodeficiency, many disorders that damage the skin barrier and immunity may also appear as atopiform dermatitis. Numerous monogenic diseases also present with prominent AD-like manifestations which may lead to misdiagnosis. We reviewed and summarized the published literatures on monogenic diseases with AD-like skin lesions in order to clarify its clinical characteristics and help early diagnosis and timely intervention.

Key words: atopic dermatitis, monogenic diseases, skin barrier defect, immunodeficiency