Akiyama M, Kim D K, Main D M, Otto C E, Holbrook K A
Department of Biological Structure, University of Washington School of Medicine, Seattle 98195.
J Invest Dermatol. 1994 Feb;102(2):210-3. doi: 10.1111/1523-1747.ep12371764.
We have examined cells from amniotic fluid obtained at 17 and 21 weeks' gestation and fetal skin biopsy samples from a fetus at risk of harlequin ichthyosis by light and electron microscopy. Clumps of abnormally keratinized cells that had a large number of lipid droplets in the cytoplasm were seen within both the 17- and 21-week amniotic fluid cell pellets. The cells in these clumps were similar to the thick layers of keratinized cells observed in the skin biopsy and autopsy samples. Morphologic examination of the fetal skin biopsy samples obtained at 21 weeks gestation revealed the characteristic changes of harlequin ichthyosis. The intraepidermal portions of hair canals had an excessive number of layers of keratinized cells. Normal lamellar granules were absent but abundant membrane-bound vesicles of a similar size and a number of dense bodies were observed in the cells of the upper intermediate layers of the epidermis. Autopsy skin samples of the terminated fetus at the twenty-third week of gestation showed structural changes that corresponded to those of the amniotic fluid cells and the fetal skin biopsy samples, although the periderm was gone in all the regions. Our findings of amniotic fluid indicate that the characteristic epidermal abnormality of harlequin ichthyosis has been expressed at 17 weeks gestation in some parts of the body or structures of fetal skin (e.g., hair canals) that keratinize before interfollicular epidermis. Moreover, the results suggest that harlequin ichthyosis can be detected in utero by morphologic analysis of amniotic fluid cells obtained by amniocentesis.
我们通过光学显微镜和电子显微镜检查了妊娠17周和21周时获取的羊水细胞，以及一名患有丑角样鱼鳞病风险胎儿的胎儿皮肤活检样本。在17周和21周的羊水细胞沉淀中均可见到细胞质内有大量脂滴的异常角化细胞团块。这些团块中的细胞与皮肤活检和尸检样本中观察到的角化细胞厚层相似。对妊娠21周时获取的胎儿皮肤活检样本进行形态学检查，发现了丑角样鱼鳞病的特征性变化。毛管的表皮内部分有过多层角化细胞。正常板层颗粒缺失，但在表皮上部中间层细胞中观察到大量大小相似的膜结合囊泡和许多致密小体。妊娠23周时终止妊娠胎儿的尸检皮肤样本显示出与羊水细胞和胎儿皮肤活检样本相应的结构变化，尽管所有区域的护皮均已消失。我们对羊水的研究结果表明，丑角样鱼鳞病的特征性表皮异常在妊娠17周时已在胎儿皮肤的某些部位或结构（如毛管）中表现出来，这些部位在毛囊间表皮之前就发生角化。此外，结果表明通过对羊膜穿刺术获取的羊水细胞进行形态学分析，可以在子宫内检测出丑角样鱼鳞病。
