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Infantile systemic hyalinosis presenting as intractable infantile diarrhea.

作者信息

Al-Mubarak Luluah, Al-Makadma Abdulkarim, Al-Khenaizan Sultan

机构信息

Division of Dermatology, Department of Medicine, King Fahad National Guard Hospital, P.O. Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia.

出版信息

Eur J Pediatr. 2009 Mar;168(3):363-5. doi: 10.1007/s00431-008-0760-8. Epub 2008 Jun 18.

DOI:10.1007/s00431-008-0760-8
PMID:18563441
Abstract

Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contractures, multiple recurring subcutaneous tumours, and gingival hypertrophy. It is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG2). Here we report a Saudi infant with infantile systemic hyalinosis who presented with intractable diarrhea, and we review the literature emphasizing recent developments in the molecular genetics of this disease.

摘要

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本文引用的文献

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On three peculiar cases of Molluscum Fibrosum in Children in which one or more of the following conditions were observed: hypertrophy of the gums, enlargement of the ends of the fingers and toes, numerous connecive-tissue tumours on the scalp, &c.关于儿童纤维软疣的三例特殊病例，其中观察到以下一种或多种情况：牙龈肥大、手指和脚趾末端肿大、头皮上有许多结缔组织肿瘤等。
Med Chir Trans. 1873;56:235-254.1.
2
Infantile systemic hyalinosis: a case report and mutation analysis in a Chinese infant.婴儿全身性透明变性：1例中国婴儿病例报告及突变分析
Br J Dermatol. 2007 Mar;156(3):602-4. doi: 10.1111/j.1365-2133.2006.07701.x.
3
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婴儿系统性透明变性：沙特阿拉伯两例重症病例报告及文献综述
Intractable Rare Dis Res. 2016 May;5(2):124-8. doi: 10.5582/irdr.2016.01003.
4
Infantile Systemic Hyalinosis with Mutation in ANTXR2.
Indian J Pediatr. 2016 Nov;83(11):1356-1357. doi: 10.1007/s12098-015-1990-1. Epub 2016 Jan 25.
5
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Intractable Rare Dis Res. 2015 Nov;4(4):210-3. doi: 10.5582/irdr.2015.01027.
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J Med Case Rep. 2014 Sep 3;8:291. doi: 10.1186/1752-1947-8-291.
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Infantile systemic hyalinosis: a case report with a novel mutation.婴儿全身性透明变性：一例伴有新突变的病例报告
Oman Med J. 2013 Jan;28(1):53-5. doi: 10.5001/omj.2013.12.
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Case report: Infantile systemic hyalinosis: a dental perspective.病例报告：婴儿全身性透明变性：牙科视角
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8
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9
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