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透明纤维瘤病综合征:皮肤表现

Hyaline fibromatosis syndrome: cutaneous manifestations.

作者信息

Marques Silvio Alencar, Stolf Hamilton Ometto, Polizel Juliana Ocanha, Munhoz Tânia, Brandão Marcela Calixto, Marques Mariangela Esther Alencar

机构信息

Universidade Estadual Paulista "Júlio de Mesquita Filho", Botucatu, SP, Brazil.

出版信息

An Bras Dermatol. 2016 Apr;91(2):226-9. doi: 10.1590/abd1806-4841.20163799.

DOI:10.1590/abd1806-4841.20163799
PMID:27192526
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4861574/
Abstract

Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as "infantile systemic hyalinosis" and "juvenile hyaline fibromatosis". The authors report representative clinical cases of each one of the above subtypes with emphasis on cutaneous manifestations and difficulties for early diagnosis in this syndrome, essentially of multidisciplinary approach.

摘要

透明纤维瘤病综合征是先前被称为“婴儿全身性透明变性”和“青少年透明纤维瘤病”的疾病临床表现的当前名称。作者报告了上述每种亚型的代表性临床病例,重点关注皮肤表现以及该综合征早期诊断的困难,主要采用多学科方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/0626fbd99d42/abd-91-02-0226-g06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/d1e90d870911/abd-91-02-0226-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/616033e8d505/abd-91-02-0226-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/e44c2b15d939/abd-91-02-0226-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/c943e2a73830/abd-91-02-0226-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/b819c460ad91/abd-91-02-0226-g05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/0626fbd99d42/abd-91-02-0226-g06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/d1e90d870911/abd-91-02-0226-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/616033e8d505/abd-91-02-0226-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/e44c2b15d939/abd-91-02-0226-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/c943e2a73830/abd-91-02-0226-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/b819c460ad91/abd-91-02-0226-g05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/280e/4861574/0626fbd99d42/abd-91-02-0226-g06.jpg

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2
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Multisystemic Manifestations of Hyaline Fibromatosis Syndrome: Implications for Diagnosis and Management.透明纤维瘤病综合征的多系统表现:对诊断和管理的意义。
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本文引用的文献

1
Systemic hyalinosis: new terminology, severity grading system, and surgical approach.系统性透明变性:新术语、严重程度分级系统及手术方法
J Pediatr. 2012 Jul;161(1):173; author reply 173-4. doi: 10.1016/j.jpeds.2012.03.039. Epub 2012 May 9.
2
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.
3
Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.
青少年透明纤维瘤病:1例罕见口腔疾病病例报告及文献复习
Transl Pediatr. 2021 Nov;10(11):3124-3129. doi: 10.21037/tp-21-169.
4
Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution.透明纤维瘤病综合征(青少年透明纤维瘤病):两名皮下结节分布不同的同胞兄弟姐妹的全身磁共振成像表现
Skeletal Radiol. 2018 Mar;47(3):425-431. doi: 10.1007/s00256-017-2799-y. Epub 2017 Oct 23.
婴儿系统性玻璃样变性病伴 ANTXR2 基因假定剪接位点突变。
Clin Exp Dermatol. 2012 Aug;37(6):635-8. doi: 10.1111/j.1365-2230.2011.04287.x. Epub 2012 Feb 2.
4
Differential expression of matrix metalloproteinases and proteoglycans in Juvenile Hyaline Fibromatosis.幼年透明性纤维瘤病中基质金属蛋白酶和蛋白聚糖的差异表达。
J Dermatol Sci. 2011 Feb;61(2):94-100. doi: 10.1016/j.jdermsci.2010.12.002. Epub 2010 Dec 14.
5
Gingival hyperplasia associated with juvenile hyaline fibromatosis: a case report and review of the literature.与青少年透明纤维瘤病相关的牙龈增生:一例报告并文献复习
J Oral Maxillofac Surg. 2010 Oct;68(10):2604-8. doi: 10.1016/j.joms.2009.09.060.
6
Juvenile hyaline fibromatosis: focus on radiographic features in adulthood.幼年透明纤维瘤病:重点关注成年期的放射学特征。
Rheumatol Int. 2011 Feb;31(2):273-6. doi: 10.1007/s00296-010-1583-2. Epub 2010 Jul 27.
7
[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.
8
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.
9
Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system.青少年透明纤维瘤病和婴儿系统性透明变性:一个统一的术语和一个提议的分级系统。
J Am Acad Dermatol. 2009 Oct;61(4):695-700. doi: 10.1016/j.jaad.2009.01.039. Epub 2009 Apr 2.
10
Exuberant juvenile hyaline fibromatosis in two patients.两名患者的旺盛型幼年透明纤维瘤病
Pediatr Dermatol. 2006 Sep-Oct;23(5):458-64. doi: 10.1111/j.1525-1470.2006.00283.x.