Niemi K M, Kanerva L, Wahlgren C F, Ignatius J
Department of Dermatology, Helsinki University Central Hospital, Finland.
Arch Dermatol Res. 1992;284(5):259-65. doi: 10.1007/BF00372578.
The recessively inherited congenital ichthyoses have ultrastructural features which indicate abnormal epidermal lipid metabolism. The ultrastructural markers of the three recessive congenital ichthyosis groups are lipid droplets in horny layers (type I), cholesterol clefts (type II) and membrane structures (type III). We describe six patients from five families belonging to the last group. The variable clinical phenotype alone does not allow the delineation of this disease, but together with the ultrastructural characteristics the subtype is unequivocal. In addition to the membrane structures, half of the cases showed abnormal keratinosomes and vesicular complexes. Membrane-bound vacuoles and needle-like slits were exceptionally found. The onset of the ichthyosis was variable, in contrast to other patients described under the heading recessive congenital ichthyosis.
隐性遗传的先天性鱼鳞病具有超微结构特征，提示表皮脂质代谢异常。三个隐性先天性鱼鳞病组的超微结构标志物分别是角质层中的脂滴（I型）、胆固醇裂隙（II型）和膜结构（III型）。我们描述了来自五个家庭的六名属于最后一组的患者。仅靠可变的临床表型无法明确诊断这种疾病，但结合超微结构特征，亚型是明确的。除了膜结构外，一半的病例显示有异常的角蛋白小体和囊泡复合体。特别发现了膜结合空泡和针状裂隙。与在隐性先天性鱼鳞病标题下描述的其他患者不同，鱼鳞病的发病情况是可变的。
