Arnold M L, Anton-Lamprecht I, Albrecht-Nebe H
Institut für Ultrastrukturforschung der Haut, Hautklinik, Ruprecht-Karls-Universität, Federal Republic of Germany.
Arch Dermatol Res. 1992;284(4):198-208. doi: 10.1007/BF00375793.
A male patient presented with a congenital ichthyosis clinically characterized by generalized erythroderma, fine scaling on the trunk and palmoplantar hyperkeratoses with severely affected nails. The acanthotic epidermis was characterized by hyperproliferation with a large quantity of mitoses and extremely suppressed keratinization without a normal granular layer. The horny layer was parakeratotic and contained remnants of cell debris and lipid droplets. Ultrastructurally the prickle cell layer was characterized by binuclear cells, oedematization of the keratinocytes and isolated dyskeratotic cells. Some suprabasal cells showed unusual morphological features, containing nuclei with cytoplasmic pseudoinclusions, sometimes leading to a complete disintegration of the nuclear structure, and bowl- and lens-shaped accumulations of a filamentous material. Instead of normal tonofibrils, the aggregated material consisted of fine interlacing filaments. The latter are compared with the filamentous shells in ichthyosis hystrix Curth-Macklin and congenital reticular ichthyosiform erythroderma. The clinical symptomatology--congenital ichthyosis, growth retardation, secondary hypogonadism, hepatomegaly--and the ultrastructural characteristics of the keratinization disorder indicate that the present case cannot be considered as a subtype of the recessively inherited ichthyosis congenita group, but suggest a new syndrome as a separate nosologic entity.
一名男性患者患有先天性鱼鳞病，临床表现为全身性红皮病、躯干细鳞屑、掌跖角化过度且指甲严重受累。棘层肥厚的表皮表现为细胞过度增殖，有大量有丝分裂，角化极度受抑制，无正常颗粒层。角质层为不全角化，含有细胞碎片和脂滴残余。超微结构上，棘细胞层的特征为双核细胞、角质形成细胞水肿和散在的角化不良细胞。一些基底层上方的细胞呈现异常形态特征，细胞核内有胞质假包涵体，有时导致核结构完全崩解，还有碗状和透镜状丝状物质聚集。聚集物质由细交织丝组成，而非正常张力原纤维。后者与豪猪状鱼鳞病Curth-Macklin型和先天性网状鱼鳞病样红皮病中的丝状壳进行了比较。临床症状——先天性鱼鳞病、生长发育迟缓、继发性性腺功能减退、肝肿大——以及角化异常的超微结构特征表明，本病例不能被视为隐性遗传性先天性鱼鳞病组的一个亚型，而提示一种新的综合征作为一个独立的疾病实体。
