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弹性假黄瘤：病理学家面临的诊断挑战——一例罕见病例报告

Pseudoxanthoma elasticum as a diagnostic challenge for pathologists: A rare case report.

作者信息

Bhutani Namita, Nadesan Akhil

机构信息

Deptt. of Pathology, North DMC Medical College, Hindu Rao Hospital, Delhi, India.

GB Pant Institute of Post Graduate Medical Education and Research (GIPMER), New Delhi, India.

出版信息

Ann Med Surg (Lond). 2022 Apr 3;77:103571. doi: 10.1016/j.amsu.2022.103571. eCollection 2022 May.

DOI:10.1016/j.amsu.2022.103571
PMID:35432986
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9006764/
Abstract

•PXE is an extremely rare autosomal recessive disease.•It involves major systems in the body like the cutaneous, ocular, cardiovascular, and gastrointestinal.•The characteristic histopathological features are calcification and fragmentation of the elastic fibres.•Currently, specific or effective treatment is not available.

摘要

•假性黄色瘤弹性纤维增生症是一种极其罕见的常染色体隐性疾病。

•它累及身体的主要系统，如皮肤、眼睛、心血管和胃肠道。

•特征性组织病理学特征是弹性纤维的钙化和断裂。

•目前尚无特效或有效的治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/231d/9006764/2e3b63fc9748/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/231d/9006764/8df1e544dc1d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/231d/9006764/2e3b63fc9748/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/231d/9006764/8df1e544dc1d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/231d/9006764/2e3b63fc9748/gr2.jpg

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本文引用的文献

1
The SCARE 2020 Guideline: Updating Consensus Surgical CAse REport (SCARE) Guidelines.SCARE 2020 指南：更新共识手术病例报告（SCARE）指南。
Int J Surg. 2020 Dec;84:226-230. doi: 10.1016/j.ijsu.2020.10.034. Epub 2020 Nov 9.
2
Pseudoxanthoma Elasticum Treatment with Fractional CO2 Laser.二氧化碳点阵激光治疗弹性假黄瘤
Plast Reconstr Surg Glob Open. 2014 Oct 7;2(9):e219. doi: 10.1097/GOX.0000000000000173. eCollection 2014 Sep.
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PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.弹性假黄瘤：诊断特征、分类及治疗选择
Expert Opin Orphan Drugs. 2014 Jun 1;2(6):567-577. doi: 10.1517/21678707.2014.908702.
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Pseudoxanthoma elasticum: report of two cases.弹性假黄瘤：两例报告。
An Bras Dermatol. 2014 Sep-Oct;89(5):812-5. doi: 10.1590/abd1806-4841.20143144.
5
Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues.弹性假黄瘤及相关疾病的组织病理学：组织学特征与诊断线索
Scientifica (Cairo). 2012;2012:598262. doi: 10.6064/2012/598262. Epub 2012 Jul 25.
6
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.假性黄色瘤弹性组织营养不良家系中心血管受累的特征。
Arterioscler Thromb Vasc Biol. 2013 Nov;33(11):2646-52. doi: 10.1161/ATVBAHA.113.301901. Epub 2013 Aug 22.
7
Treatment of choroidal neovascularization due to angioid streaks: a comprehensive review.治疗脉络膜新生血管性条纹引起的脉络膜新生血管：全面综述。
Retina. 2013 Jul-Aug;33(7):1300-14. doi: 10.1097/IAE.0b013e3182914d2b.
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[Pseudoxanthoma elasticum. More than a skin problem].[弹性假黄瘤。不止是皮肤问题]
Hautarzt. 2013 Apr;64(4):222, 224-5. doi: 10.1007/s00105-013-2555-8.
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Rare heritable skin diseases: targets for regenerative medicine.罕见遗传性皮肤病：再生医学的靶点
J Invest Dermatol. 2012 Nov;132(11):2485-8. doi: 10.1038/jid.2012.334.
10
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.弹性假黄瘤患者的皮肤表现，该患者由于 ENPP1 基因的纯合错义突变而患有婴儿型全身性动脉钙化症。
Br J Dermatol. 2012 May;166(5):1107-11. doi: 10.1111/j.1365-2133.2012.10811.x. Epub 2012 Apr 4.