MEMBRANE STRUCTURAL ABNORMALITIES IN THE STRATUM-CORNEUM OF THE AUTOSOMAL RECESSIVE ICHTHYOSES
MEMBRANE STRUCTURAL ABNORMALITIES IN THE STRATUM-CORNEUM OF THE AUTOSOMAL RECESSIVE ICHTHYOSES
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DOI：
10.1111/1523-1747.ep12614489
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发表时间：
1992-12-01
影响因子：
6.5
通讯作者：
ELIAS, PM
中科院分区：
文献类型：
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作者：
GHADIALLY, R;WILLIAMS, ML;ELIAS, PM
先天性鱼鳞状红皮病(CIE)和经典型的板层状鱼鳞病(LI)是常染色体隐性角化病(DOC)，以前通过临床、组织学、超微结构和细胞动力学标准加以区分。CIE组内部是否存在进一步的异质性尚不确定。为了解决遗传异质性的问题，并研究这些DOC的发病机制，对8名CIE、3名LI和6名正常受试者的皮肤活检组织进行了电子显微镜评估，包括四氧化二Ru后固定的光学衍射，以可视化和定量细胞间膜结构域。我们在CIE中发现了异常的板层小体，在CIE和3例LI患者中发现了明显的细胞间板层双层结构的改变。两名患者在不同部位的两次活组织检查证实了这些发现的一致性。此外，在CIE和三名LI患者中，桥粒持续存在于SC的外层，表明降解受损。我们的超微结构观察支持先前报道的CIE和LI之间的表型差异，以及CIE内遗传异质性的进一步可能性。然而，这些研究并不支持基于细胞质结构异常将常染色体隐性鱼鳞病分为三个亚组。最后，这些研究为常染色体隐性遗传性DOC的发病机制提供了新的见解。
Congenital ichthyosiform erythroderma (CIE) and classic lamellar ichthyosis (LI) are autosomal recessive disorders of cornification (DOC), distinguished previously by clinical, histologic, ultrastructural, and cell kinetic criteria. Whether there is further heterogeneity within the CIE group is uncertain. To address the issue of genetic heterogeneity, and to study the pathogenesis of these DOC, skin biopsies from eight CIE, three LI, and six normal subjects were assessed by electron microscopy, including ruthenium tetroxide post-fixation with optical diffraction, to visualize and quantitate intercellular membrane domains. We found abnormal lamellar bodies in CIE and distinctive alterations in intercellular lamellar bilayer architecture among patients with CIE and three patients with LI. Two biopsies from two patients at different sites demonstrated the consistency of these findings. Moreover, in both CIE and the three LI patients, desmosomes persisted throughout the outer layers of the SC, indicative of impaired degradation. Our ultrastructural observations support the previously reported phenotypic distinction between CIE and LI, and the further likelihood of genetic heterogeneity within CIE. However, these studies do not support the division of the autosomal recessive ichthyoses into three subgroups based upon cytosolic structural abnormalities. Finally, these studies provide new insights into the pathogenesis of the autosomal recessive DOC.