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类固醇硫酸酯酶缺乏性鱼鳞病。76例临床研究。

Ichthyosis of steroid sulphatase deficiency. Clinical study of 76 cases.

作者信息

Høyer H, Lykkesfeldt G, Ibsen H H, Brandrup F

出版信息

Dermatologica. 1986;172(4):184-90. doi: 10.1159/000249332.

DOI:10.1159/000249332
PMID:3709904
Abstract

A detailed clinical study of 76 males with steroid sulphatase deficiency confirmed the ichthyosis of this disorder to be identical with the classical descriptions of recessive X-linked ichthyosis. The appearance of regular ichthyotic scaling seems in most instances to be heralded by a general peeling of the skin. This characteristic feature was registered between age 1 and 3 weeks in 19 of 21 young boys followed due to a placental steroid sulphatase deficiency. Later on, polygonal scales giving a 'dirty' appearance were most pronounced on the distal parts of the body and extensor aspects of the extremities. The ichthyosis aggravates through childhood into adult age.

摘要

一项对76名类固醇硫酸酯酶缺乏症男性患者的详细临床研究证实,该疾病的鱼鳞病与隐性X连锁鱼鳞病的经典描述完全相同。在大多数情况下,规则的鱼鳞病鳞屑出现之前,皮肤通常会先出现普遍的脱皮现象。在21名因胎盘类固醇硫酸酯酶缺乏而接受随访的男童中,有19名在1至3周龄时出现了这一特征性表现。随后,身体远端部位和四肢伸侧出现的呈“脏污”外观的多边形鳞屑最为明显。鱼鳞病在儿童期到成年期会逐渐加重。

相似文献

1
Ichthyosis of steroid sulphatase deficiency. Clinical study of 76 cases.类固醇硫酸酯酶缺乏性鱼鳞病。76例临床研究。
Dermatologica. 1986;172(4):184-90. doi: 10.1159/000249332.
2
Steroid sulphatase deficiency disease.类固醇硫酸酯酶缺乏症
Clin Genet. 1985 Sep;28(3):231-7. doi: 10.1111/j.1399-0004.1985.tb00391.x.
3
Sex-linked ichthyosis and placental sulphatase C deficiency.性连锁鱼鳞病与胎盘硫酸酯酶C缺乏症
Br J Dermatol. 1980 Jul;103(1):73-9. doi: 10.1111/j.1365-2133.1980.tb15840.x.
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The effect of steroid sulphatase on stratum corneum shedding in patients with X-linked ichthyosis.类固醇硫酸酯酶对X连锁鱼鳞病患者角质层脱落的影响。
Br J Dermatol. 1985 Dec;113(6):641-3. doi: 10.1111/j.1365-2133.1985.tb02398.x.
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X-linked recessive ichthyosis in three sisters: evidence for homozygosity.三姐妹患X连锁隐性鱼鳞病:纯合性证据
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X-linked ichthyosis due to steroid-sulphatase deficiency.
Lancet. 1978 Jan 14;1(8055):70-2. doi: 10.1016/s0140-6736(78)90005-3.
7
Prenatal diagnosis and variable presentation of recessive X-linked ichthyosis.
Br J Dermatol. 1985 Apr;112(4):423-30. doi: 10.1111/j.1365-2133.1985.tb02315.x.
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Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.X连锁鱼鳞病与多种硫酸酯酶缺乏症体细胞杂交后类固醇硫酸酯酶的基因互补
Hum Genet. 1985;70(4):315-7. doi: 10.1007/BF00295367.
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X-linked icthyosis. A sulphatase deficiency.X连锁鱼鳞病。一种硫酸酯酶缺乏症。
Arch Dis Child. 1978 Oct;53(10):803-6. doi: 10.1136/adc.53.10.803.
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Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis.最初被诊断为寻常型鱼鳞病或X连锁隐性鱼鳞病患者的类固醇硫酸酯酶缺乏症。
Br J Dermatol. 1985 Apr;112(4):431-3. doi: 10.1111/j.1365-2133.1985.tb02316.x.

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[The ichthyoses. Pathophysiological models of epidermal differentiation].[鱼鳞病。表皮分化的病理生理模型]
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