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首页> 外文期刊>Acta Dermato-Venereologica >Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients.
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Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients.

机译：瑞典和爱沙尼亚的常染色体隐性遗传性先天性鱼鳞病：83例患者的临床，遗传和超微结构发现。

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摘要

Congenital (non-bullous) ichthyosis is a rare group of keratinizing disorders which can be tentatively subclassified based on clinical criteria, analysis of transglutaminase 1 gene mutations and electron microscopy of epidermis. We studied 83 patients who were all on topical therapy and in 16 cases also on oral retinoids. Three main groups of patients were distinguished: (A) those with transglutaminase 1 gene mutations (n=44), (B) those without transglutaminase 1 gene mutations showing a coarse, generalized scaling (n=19), and (C) those without transglutaminase 1 gene mutations showing only fine or focal scaling (n=20). On clinical scoring, patients in group A were more hyperkeratotic and less erythematous than those in group B (p < 0.05). Anhidrosis was recorded in nearly all patients (> or = 80%), but ectropion and a collodion phenotype at birth were more common in group A versus other groups. Ultrastructurally, a high frequency of type I (Anton-Lamprecht's classification) was found in all three groups (37-63%), 20 cases of type II in group A and a few cases of types III and IV in groups B and C, respectively. In conclusion, transglutaminase 1 gene mutation is a major cause of congenital ichthyosis in Sweden and Estonia, and is often associated with severe scaling and ultrastructural type II in corneocytes. The transglutaminase-unrelated cases are more heterogeneous, probably reflecting a more varied aetiology.
机译：先天性（非牛眼）鱼鳞病是一组罕见的角化病，可根据临床标准，转谷氨酰胺酶1基因突变分析和表皮电子显微镜暂定亚分类。我们研究了83例均接受局部治疗的患者，其中16例还接受了口服类维生素A的治疗。区分了三类主要患者：（A）具有转谷氨酰胺酶1基因突变的患者（n = 44），（B）没有转谷氨酰胺酶1基因突变的患者表现出粗略的，普遍的鳞屑（n = 19），以及（C）没有患者转谷氨酰胺酶1基因突变仅显示精细或局部缩放（n = 20）。在临床评分上，A组的患者比B组的患者具有更高的角化程度和更少的红斑病（p <0.05）。几乎所有患者（>或= 80％）都记录到汗湿症，但出生时外翻和胶棉的表型在A组比其他组更为常见。在超微结构方面，在所有三个组中发现了高频率的I型（Anton-Lamprecht分类）（37-63％），在A组中发现了20例II型病例，在B和C组中发现了一些III和IV型病例，分别。总之，转谷氨酰胺酶1基因突变是瑞典和爱沙尼亚先天性鱼鳞病的主要原因，通常与角质细胞的严重结垢和II型超微结构有关。与转谷氨酰胺酶无关的病例更加异质，可能反映了更广泛的病因。

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