Omenn's syndrome: Differential diagnosis in infants with erythroderma and immunodeficiency
Omenn's syndrome: Differential diagnosis in infants with erythroderma and immunodeficiency
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DOI：
10.1007/s100240010171
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发表时间：
2001-05-01
影响因子：
1.9
通讯作者：
Malone, M
中科院分区：
文献类型：
--
作者：
Scheimberg, I;Hoeger, PH;Malone, M
新生儿红皮病合并免疫缺陷和生长失败的临床鉴别诊断包括移植物抗宿主病（GVHD）、Omenn综合征（OS）和内瑟顿综合征（NS）。除了免疫学检查，皮肤活检是诊断工作的重要组成部分。我们回顾了来自大奥蒙德街组织病理学部门的25例患者的活检，其中9例为OS， 11例为GVHD， 5例为NS。5例患者有两个活检标本。OS和GVHD均表现为角化异常和基底空泡化。OS总是表现为棘层增生，几乎总是角化不全。GVHD表现为扁平表皮，极少见角化不全。LCA和CD68免疫组化可以通过真皮浸润中淋巴细胞和巨噬细胞的相对比例来区分OS和GVHD （OS中以淋巴细胞为主，GVHD中巨噬细胞相对较多）。在6周龄之前，皮肤活检诊断OS是困难的，因为特征发育不全。NS可通过牛皮癣样棘层增生、基底膜增厚、真皮血管突出、无角化异常、基底层空泡化以及淋巴细胞和巨噬细胞等量的真皮浸润来区分。因此，GVHD和OS的主要区别在于LCA和CD68免疫组化染色中浸润细胞中淋巴细胞和巨噬细胞的比例，而OS和NS可以单独从H&E形态学上区分。
The clinical differential diagnosis of erythroderma plus immunodeficiency and failure to thrive in neonates includes,graft-versus-host-disease (GVHD), Omenn's syndrome (OS), and Nether-ton's syndrome (NS). In addition to immunological investigations, skin biopsy is an important part of the diagnostic work-up. We reviewed biopsies from 25 patients that were retrieved from the at-chives of the Department of Histopathology at Great Ormond Street, of which 9 were OS, 11 were GVHD, and 5 were NS. Five patients had two biopsy specimens. Both OS and GVHD show dyskeratosis and basal vacuolation. OS always shows acanthosis and almost always parakeratosis. GVHD shows a flat epidermis and rarely parakeratosis. OS and GVHD can be distinguished after immunohistochemistry for LCA and CD68 by the relative proportions of lymphocytes and macrophages in the dermal infiltrate (predominantly lymphocytes in OS, relatively more macrophages in GVHD). Skin biopsy diagnosis of OS is difficult before 6 weeks of age because the features are poorly developed. NS can be distinguished by psoriasiform acanthosis, thickening of the basement membrane, prominent dermal blood vessels, absence of dyskeratosis, and basal layer vacuolation, and a dermal infiltrate in which lymphocytes and macrophages are equally represented. Thus, the main difference between GVHD and OS is in the proportion of lymphocytes and macrophages in the infiltrate on immunohistochemical staining for LCA and CD68, while OS and NS may be distinguished on H&E morphology alone.