Rufli T, Schneider B V, Schnyder U W
Dermatologische Universitätsklinik, Kantonsspital Basel.
Hautarzt. 1990 Aug;41(8):442-7.
A congenital dermatosis with an unusual course is described in a 5-year-old girl. During the first months of life she was found to have erythrokeratodermatic plaques, which developed into a non-bullous (congenital) ichthyosiform erythroderma (CIE) within 1 year. Since then, the clinical picture has remained stable. Histologically, the upper epidermal layers showed ballooning and vacuolization of the keratinocytes, glycogen storage, and focal parakeratotic keratinization. Conspicuous ultrastructural alterations consisted in the formation of shells of fine-filamentous, cross-linked material of unknown nature, binuclear keratinocytes, perinuclear edema formation, and the occurrence of lipid droplets in the horny layer. The n-alkane value was within the normal range. Our histological and ultrastructural findings are largely in accordance with those in a case of "congenital reticular ichthyosiform erythroderma". The disorder seems to represent a special genotype in the heterogeneous group of the non-bullous CIEs. We suggest naming it "non-bullous (congenital) ichthyosiform erythroderma with perinuclear shells".
一名5岁女孩患有病程异常的先天性皮肤病。在出生后的最初几个月，她被发现有红斑角化性斑块，1年内发展为非大疱性（先天性）鱼鳞病样红皮病（CIE）。从那时起，临床表现一直稳定。组织学上，表皮上层显示角质形成细胞气球样变和空泡化、糖原储存以及灶性角化不全性角化。明显的超微结构改变包括形成由性质不明的细丝状交联物质构成的壳、双核角质形成细胞、核周水肿形成以及角质层中出现脂滴。正构烷值在正常范围内。我们的组织学和超微结构发现与“先天性网状鱼鳞病样红皮病”病例的发现基本一致。该疾病似乎代表了非大疱性CIE异质性群体中的一种特殊基因型。我们建议将其命名为“伴有核周壳的非大疱性（先天性）鱼鳞病样红皮病”。
