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一位母亲和两名患有非大疱性先天性鱼鳞病样红皮病的儿童。

A mother and two children with nonbullous congenital ichthyosiform erythroderma.

作者信息

Rossmann-Ringdahl I, Anton-Lamprecht I, Swanbeck G

出版信息

Arch Dermatol. 1986 May;122(5):559-64.

PMID:3707173
Abstract

A mother and her two daughters were all afflicted by congenital nonbullous ichthyosis. The clinical and ultrastructural picture are in accordance with recessive congenital ichthyosiform erythroderma. The mode of inheritance for the children is assumed to be by pseudo-dominance. Nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis are probably heterogeneous.

摘要

一位母亲和她的两个女儿都患有先天性非大疱性鱼鳞病。临床和超微结构表现符合隐性先天性鱼鳞病样红皮病。孩子们的遗传方式被认为是通过假显性。非大疱性先天性鱼鳞病样红皮病和板层状鱼鳞病可能是异质性的。

相似文献

1
A mother and two children with nonbullous congenital ichthyosiform erythroderma.一位母亲和两名患有非大疱性先天性鱼鳞病样红皮病的儿童。
Arch Dermatol. 1986 May;122(5):559-64.
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Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.板层状鱼鳞病与非大疱性先天性鱼鳞病样红皮病之间的临床、组织学及细胞动力学鉴别要点
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Report of a family with an unusual expression of recessive ichthyosis. Review of 42 cases.一个隐性鱼鳞病异常表现家系的报告。42例病例回顾。
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Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis.先天性鱼鳞病样红皮病中n-烷烃升高。两种常染色体隐性鱼鳞病的表型分化。
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Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma.丑胎进展为非大疱性鱼鳞病样红皮病。
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Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.常染色体隐性鱼鳞病的异质性。板层状鱼鳞病和非大疱性先天性鱼鳞病样红皮病的临床及生化鉴别
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[Oral treatment of lamellar ichthyosis (non-bullous congenital ichthyosiform erythroderma) with an aromatic retinoid (author's transl)].用芳香维甲酸口服治疗板层状鱼鳞病(非大疱性先天性鱼鳞病样红皮病)(作者译)
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[Congenital bullous ichthyosiform erythroderma].[先天性大疱性鱼鳞病样红皮病]
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[Bullous congenital ichthyosiform erythroderma in a mother and son].[一对母子患大疱性先天性鱼鳞病样红皮病]
G Ital Dermatol Venereol. 1989 Mar;124(3):97-102.

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Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.扩大泳衣鱼鳞病的基因型谱。
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
美国104例常染色体隐性遗传性先天性鱼鳞病患者的新型转谷氨酰胺酶-1突变及基因型-表型研究
J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23.
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Recessive ichthyosis congenita type II.隐性先天性鱼鳞病II型
Arch Dermatol Res. 1991;283(4):211-8. doi: 10.1007/BF01106104.