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色素失禁症（布洛赫-苏尔茨贝格综合征）：来自一个家族的7例病例报告。

Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family.

作者信息

Spallone A

机构信息

St Gerardo Hospital, Department of Ophthalmology, Monza, Milan, Italy.

出版信息

Br J Ophthalmol. 1987 Aug;71(8):629-34. doi: 10.1136/bjo.71.8.629.

DOI:10.1136/bjo.71.8.629
PMID:3115288
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1041246/
Abstract

Seven members from a large family who showed signs of incontinentia pigmenti were examined. A clear X-linked dominant transmission was demonstrated, lethal in males. Study of this family shows that vascular abnormalities of the retina and disorders of the retinal pigment epithelium are the most important ocular lesions in the Bloch-Sulzberger syndrome.

摘要

对一个有色素失禁症迹象的大家庭中的七名成员进行了检查。结果显示为明显的X连锁显性遗传，男性致死。对这个家族的研究表明，视网膜血管异常和视网膜色素上皮疾病是布洛赫-苏尔茨贝格综合征最重要的眼部病变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/c6c6a41ae5dd/brjopthal00618-0070-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/84d9ba1d9ee0/brjopthal00618-0067-a.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/e312583f223c/brjopthal00618-0068-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/d97647ef11fd/brjopthal00618-0068-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/9edb8b619117/brjopthal00618-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/1b82a202840b/brjopthal00618-0069-b.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/c6c6a41ae5dd/brjopthal00618-0070-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/84d9ba1d9ee0/brjopthal00618-0067-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/d31261fd180d/brjopthal00618-0067-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/3740a8287315/brjopthal00618-0067-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/e615fa7d9fee/brjopthal00618-0068-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/e312583f223c/brjopthal00618-0068-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/d97647ef11fd/brjopthal00618-0068-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/9edb8b619117/brjopthal00618-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/1b82a202840b/brjopthal00618-0069-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/406d9259e78a/brjopthal00618-0069-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/7a79b75b30b9/brjopthal00618-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/e69b1900dc4a/brjopthal00618-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f946/1041246/c6c6a41ae5dd/brjopthal00618-0070-c.jpg

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Incontinentia pigmenti (Bloch-Sulzberger syndrome).色素失禁症（布洛赫-苏尔茨贝格综合征）。

本文引用的文献

1
Incontinentia pigmenti (Bloch-Sulzberger) associated with proliferative eyeground changes and positive toxoplasmosis reaction.色素失禁症（布洛赫-苏尔茨贝格综合征）伴增殖性眼底改变及弓形虫反应阳性
Acta Psychiatr Neurol Scand Suppl. 1956;108:197-202. doi: 10.1111/j.1600-0447.1956.tb01682.x.
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Dermatologica. 1954 Jan;108(1):1-28.
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Ocular lesions in incontinentia pigmenti.色素失禁症的眼部病变。
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The blinding mechanisms of incontinentia pigmenti.色素失禁症的致盲机制。
Trans Am Ophthalmol Soc. 1994;92:167-76; discussion 176-9.
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Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.将伴有面部、牙齿和骨骼特征的X连锁白内障和小角膜基因定位到Xp22：对南斯-霍兰综合征的评估
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J Pediatr Ophthalmol Strabismus. 1983 Mar-Apr;20(2):42-8. doi: 10.3928/0191-3913-19830301-02.
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Conjunctival and retinal incontinentia pigmenti.结膜和视网膜色素失禁
Arch Ophthalmol. 1968 Apr;79(4):417-22. doi: 10.1001/archopht.1968.03850040419010.
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Incontinentia pigmenti, pheochromocytoma, and ocular abnormalities.色素失禁症、嗜铬细胞瘤和眼部异常。
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Ocular findings in incontinentia pigmenti.
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Incontinentia pigmenti. A world statistical analysis.色素失禁症。一项全球统计分析。
Arch Dermatol. 1976 Apr;112(4):535-42.
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Retinal pigment epithelium in incontinentia pigmenti.
Am J Ophthalmol. 1975 Apr;79(4):571-7. doi: 10.1016/0002-9394(75)90794-1.