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大疱性鱼鳞病样红皮病的产前诊断：胎儿表皮细胞和羊水细胞中张力细丝团块的检测

Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells.

作者信息

Eady R A, Gunner D B, Carbone L D, Bricarelli F D, Gosden C M, Rodeck C H

出版信息

J Med Genet. 1986 Feb;23(1):46-51. doi: 10.1136/jmg.23.1.46.

DOI:10.1136/jmg.23.1.46
PMID:3512829
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049540/
Abstract

The prenatal diagnosis of bullous ichthyosiform erythroderma (BIE) has been achieved at 20 weeks' gestation by electron microscopic identification of a pathognomonic cytoskeletal abnormality within fetal epidermal cells obtained by fetoscopic skin biopsy. The same abnormality was also observed in skin derived amniotic fluid cells. The question whether amniocentesis might be used instead of fetoscopy for future prenatal detection of BIE is discussed.

摘要

通过对胎儿镜皮肤活检获取的胎儿表皮细胞进行电子显微镜检查，在妊娠20周时实现了大疱性鱼鳞病样红皮病（BIE）的产前诊断。在羊水来源的皮肤细胞中也观察到了同样的异常。本文讨论了未来是否可以用羊膜穿刺术代替胎儿镜检查来进行BIE的产前检测这一问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/e8b20ee295bc/jmedgene00087-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/a2791e8d7eb0/jmedgene00087-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/6d97e1545266/jmedgene00087-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/f85920fe12c5/jmedgene00087-0054-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/dcca3251d113/jmedgene00087-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/607c84de4d8d/jmedgene00087-0055-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/37187f1f1825/jmedgene00087-0055-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/e8b20ee295bc/jmedgene00087-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/a2791e8d7eb0/jmedgene00087-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/6d97e1545266/jmedgene00087-0053-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/f85920fe12c5/jmedgene00087-0054-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/dcca3251d113/jmedgene00087-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/607c84de4d8d/jmedgene00087-0055-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/37187f1f1825/jmedgene00087-0055-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adbe/1049540/e8b20ee295bc/jmedgene00087-0056-a.jpg

相似文献

1
Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells.大疱性鱼鳞病样红皮病的产前诊断：胎儿表皮细胞和羊水细胞中张力细丝团块的检测
J Med Genet. 1986 Feb;23(1):46-51. doi: 10.1136/jmg.23.1.46.
2
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Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy.通过胎儿皮肤活检对先天性大疱性鱼鳞病样红皮病（表皮松解性角化过度症）进行产前诊断。
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Analysis of skin-derived amniotic fluid cells in the second trimester; detection of severe genodermatoses expressed in the fetal period.
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The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies.同一家族中孕胎儿先天性鱼鳞病样红皮病的表现：形态学和生化研究
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The biology of human fetal skin at ages related to prenatal diagnosis.与产前诊断相关年龄的人类胎儿皮肤生物学。
Pediatr Dermatol. 1983 Oct;1(2):97-111. doi: 10.1111/j.1525-1470.1983.tb01100.x.

引用本文的文献

1
Fetal tissue sampling--indications, techniques, complications, and experience with sampling of fetal skin, liver, and muscle.胎儿组织取样——指征、技术、并发症以及胎儿皮肤、肝脏和肌肉取样的经验
West J Med. 1993 Sep;159(3):269-72.

本文引用的文献

1
Prenatal diagnosis of harlequin ichthyosis.
Clin Genet. 1980 Apr;17(4):275-80. doi: 10.1111/j.1399-0004.1980.tb00147.x.
2
Prenatal diagnosis of Sjögren-Larsson syndrome.
J Pediatr. 1982 Dec;101(6):998-1001. doi: 10.1016/s0022-3476(82)80030-9.
3
Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy.通过电子显微镜对皮肤遗传性疾病进行产前诊断。
Hum Genet. 1981;59(4):392-405. doi: 10.1007/BF00295479.
4
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy.
通过胎儿皮肤活检对先天性大疱性鱼鳞病样红皮病（表皮松解性角化过度症）进行产前诊断。
N Engl J Med. 1980 Jan 10;302(2):93-5. doi: 10.1056/NEJM198001103020205.
5
Rapid processing of fetal skin for prenatal diagnosis by light and electron microscopy.通过光学显微镜和电子显微镜对胎儿皮肤进行快速处理以用于产前诊断。
J Clin Pathol. 1984 Jun;37(6):633-8. doi: 10.1136/jcp.37.6.633.
6
Prenatal diagnosis of X-linked ichthyosis.
Clin Chim Acta. 1982 Mar 26;120(1):143-52. doi: 10.1016/0009-8981(82)90085-7.
7
Amniotic fluid cell types and culture.羊水细胞类型与培养
Br Med Bull. 1983 Oct;39(4):348-54. doi: 10.1093/oxfordjournals.bmb.a071847.
8
Fetoscopy and fetal tissue sampling.胎儿镜检查与胎儿组织取样。
Br Med Bull. 1983 Oct;39(4):332-7. doi: 10.1093/oxfordjournals.bmb.a071844.
9
The ichthyoses--pathogenesis and prenatal diagnosis: a review of recent advances.鱼鳞病——发病机制与产前诊断：近期进展综述
Pediatr Dermatol. 1983 Jul;1(1):1-24. doi: 10.1111/j.1525-1470.1983.tb01087.x.
10
Prenatal fetal karyotyping and maternal serum alpha-fetoprotein screening.产前胎儿染色体核型分析和母血清甲胎蛋白筛查。
Br Med J (Clin Res Ed). 1981 Jan 24;282(6260):255-8. doi: 10.1136/bmj.282.6260.255.