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Infantile Systemic Hyalinosis: A Case Report with a Brief Review.

作者信息

Sangwan Priyanka, Shreya K, Rout Arpita N, Jaladi Harini C

机构信息

Department of Dermatology and Venereology, All India Institute of Medical Sciences, Bhubaneshwar, Odisha, India.

Department of Pediatrics, All India Institute of Medical Sciences, Bhubaneshwar, Odisha, India.

出版信息

Indian Dermatol Online J. 2024 Jul 5;15(5):856-858. doi: 10.4103/idoj.idoj_631_23. eCollection 2024 Sep-Oct.

DOI:10.4103/idoj.idoj_631_23
PMID:39359294
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11444444/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/25b156f025e6/IDOJ-15-856-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/9e652d88eda4/IDOJ-15-856-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/82bd20f1c0eb/IDOJ-15-856-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/28956269f935/IDOJ-15-856-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/94a9ba24da58/IDOJ-15-856-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/25b156f025e6/IDOJ-15-856-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/9e652d88eda4/IDOJ-15-856-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/82bd20f1c0eb/IDOJ-15-856-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/28956269f935/IDOJ-15-856-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/94a9ba24da58/IDOJ-15-856-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f3f7/11444444/25b156f025e6/IDOJ-15-856-g005.jpg

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本文引用的文献

1
Infantile systemic hyalinosis: Variable grades of severity.婴儿全身玻璃样变性：严重程度不一。
Afr J Paediatr Surg. 2021 Oct-Dec;18(4):224-230. doi: 10.4103/ajps.AJPS_162_20.
2
Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature.伴有杂合性CMG2突变的系统性透明变性：一例报告及文献复习
Am J Dermatopathol. 2016 May;38(5):e60-3. doi: 10.1097/DAD.0000000000000467.
3
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
鉴定透明纤维瘤病综合征患者中的 2 种新型 ANTXR2 突变，并提出改良的分级系统。
Am J Med Genet A. 2012 Apr;158A(4):732-42. doi: 10.1002/ajmg.a.35228. Epub 2012 Mar 1.
4
[Juvenile hyaline fibromatosis and infantile systemic hyalinosis. Case for diagnosis].[青少年透明纤维瘤病和婴儿全身性透明变性。诊断病例]
An Bras Dermatol. 2009 Nov-Dec;84(6):677-9. doi: 10.1590/s0365-05962009000600017.
5
Differential glycosaminoglycan expression and hyaluronan homeostasis in juvenile hyaline fibromatosis.青少年透明纤维瘤病中糖胺聚糖的差异表达及透明质酸稳态
J Am Acad Dermatol. 2009 Oct;61(4):629-38. doi: 10.1016/j.jaad.2009.03.042. Epub 2009 Jun 25.
6
Infantile systemic hyalinosis in a black infant.一名黑人婴儿患婴儿全身性透明变性病。
Pediatr Dermatol. 1994 Mar;11(1):52-60. doi: 10.1111/j.1525-1470.1994.tb00076.x.