Niemi K M, Kanerva L, Kuokkanen K, Ignatius J
Department of Dermatology, Helsinki University Central Hospital, Finland.
Br J Dermatol. 1994 May;130(5):626-33. doi: 10.1111/j.1365-2133.1994.tb13110.x.
Based on electron microscopic features, recessive congenital ichthyoses have recently been divided into four subgroups designated ichthyosis congenita (IC) types I, II, III and IV. Type II is characterized by cholesterol clefts in the horny cells, type III by perinuclear elongated membranes in the granular and horny cells, and type IV by masses of lipid membranes in granular and horny cells. Clear electron microscopic criteria for type I are lacking, although the presence of lipid droplets in the horny cells has been suggested as a criterion. In the present study we included ichthyosis patients with (i) recessive inheritance, (ii) erythrodermic fine scaling, (iii) lack of fine structural markers of IC types II-IV. Patients with ichthyotic syndromes were excluded. The case material consisted of 21 patients from 14 families. Eight were collodion babies at birth, but three were normal. Nine had ectropion, the flexures were affected in 12, and the palms and soles were thickened in all but one patient. On electron microscopy lipid vacuoles in the horny cells were common, but were absent in four patients. Changes in other lipid-related structures, including keratinosomes, were common. We conclude that currently type I can be diagnosed only by excluding the other types of ichthyosis. Clinically, IC type I corresponds to classical non-bullous congenital ichthyosiform erythroderma, but there is marked heterogeneity among affected individuals.
基于电子显微镜特征，隐性先天性鱼鳞病最近被分为四个亚组，分别命名为先天性鱼鳞病（IC）I型、II型、III型和IV型。II型的特征是角质形成细胞中有胆固醇裂隙，III型是颗粒层和角质形成细胞中有核周伸长的膜，IV型是颗粒层和角质形成细胞中有大量脂膜。虽然有人提出角质形成细胞中存在脂滴可作为I型的标准，但目前缺乏明确的I型电子显微镜诊断标准。在本研究中，我们纳入了符合以下条件的鱼鳞病患者：（i）隐性遗传，（ii）红皮病伴细鳞屑，（iii）缺乏IC II-IV型的精细结构标志物。鱼鳞病综合征患者被排除在外。病例材料包括来自14个家庭的21名患者。8例出生时为胶样婴儿，但3例正常。9例有睑外翻，12例褶皱处受累，除1例患者外所有患者的手掌和足底均增厚。电子显微镜检查显示，角质形成细胞中有脂质空泡很常见，但有4例患者没有。包括板层小体在内的其他与脂质相关的结构改变也很常见。我们得出结论，目前I型只能通过排除其他类型的鱼鳞病来诊断。临床上，IC I型对应于经典的非大疱性先天性鱼鳞病样红皮病，但受累个体之间存在明显的异质性。
