St Helens and Knowsley Teaching Hospitals NHS Trust, St Helens, UK.
Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UK.
Pediatr Dermatol. 2021 Mar;38(2):541-543. doi: 10.1111/pde.14401. Epub 2021 Jan 29.
Omenn syndrome is a rare combined immunodeficiency mostly associated with RAG1 and RAG2 mutations; the clinical manifestations are well-described and include neonatal erythroderma. Mortality due to opportunistic infections is a serious risk, and a timely diagnosis with a skin biopsy is an important part of the diagnostic workup. We wish to highlight key clinical features of Omenn syndrome and discuss the relevance of a skin biopsy.
奥姆enn 综合征是一种罕见的联合免疫缺陷病，主要与 RAG1 和 RAG2 突变有关；其临床表现已有详细描述，包括新生儿红皮病。由于机会性感染导致的死亡率是一个严重的风险，及时进行皮肤活检有助于诊断，这也是诊断工作的重要组成部分。我们希望强调奥姆enn 综合征的关键临床特征，并讨论皮肤活检的相关性。
