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PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.

作者信息

Garzon Maria C, Epstein Leon G, Heyer Geoffrey L, Frommelt Peter C, Orbach Darren B, Baylis Adriane L, Blei Francine, Burrows Patricia E, Chamlin Sarah L, Chun Robert H, Hess Christopher P, Joachim Shawna, Johnson Katherine, Kim Wendy, Liang Marilyn G, Maheshwari Mohit, McCoy Garrett N, Metry Denise W, Monrad Priya A, Pope Elena, Powell Julie, Shwayder Tor A, Siegel Dawn H, Tollefson Megha M, Vadivelu Sudhakar, Lew Sean M, Frieden Ilona J, Drolet Beth A

机构信息

Departments of Dermatology and Pediatrics, Columbia University, New York, NY.

Departments of Pediatrics and Neurology, The Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL.

出版信息

J Pediatr. 2016 Nov;178:24-33.e2. doi: 10.1016/j.jpeds.2016.07.054. Epub 2016 Sep 19.

DOI:10.1016/j.jpeds.2016.07.054
PMID:27659028
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6599593/
Abstract
摘要

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J Pediatr. 2016 Nov;178:24-33.e2. doi: 10.1016/j.jpeds.2016.07.054. Epub 2016 Sep 19.
2
[Children with infantile haemangiomas should be worked-up for PHACE syndrome].患有婴儿血管瘤的儿童应接受PHACE综合征检查。
Ugeskr Laeger. 2013 Sep 9;175(37):2118-9.
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Gigantic vascular anomaly in a PHACE syndrome patient managed with photodynamic therapy.一名患有PHACE综合征的患者通过光动力疗法治疗巨大血管异常。
Photodiagnosis Photodyn Ther. 2016 Sep;15:79-82. doi: 10.1016/j.pdpdt.2016.05.007. Epub 2016 May 24.
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[Diagnostic criteria and treatment progress of PHACE syndrome].[PHACE综合征的诊断标准与治疗进展]
Zhonghua Kou Qiang Yi Xue Za Zhi. 2017 Nov 9;52(11):700-703. doi: 10.3760/cma.j.issn.1002-0098.2017.11.011.
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Abortive haemangioma in PHACE(S) syndrome.PHACE(S)综合征中的消退型血管瘤
J Eur Acad Dermatol Venereol. 2016 Mar;30(3):505-7. doi: 10.1111/jdv.12902. Epub 2014 Dec 10.
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Holmes heart and tetralogy of Fallot in association with PHACE.福尔摩斯心脏与法洛四联症合并PHACE。
Pediatr Dermatol. 2018 Jan;35(1):e39-e41. doi: 10.1111/pde.13363. Epub 2017 Dec 15.
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PHACE syndrome associated with club foot and thumb-in-palm deformity.伴有马蹄内翻足和拇指内收畸形的PHACE综合征。
J Dermatol. 2012 Dec;39(12):1054-5. doi: 10.1111/j.1346-8138.2012.01588.x. Epub 2012 Jun 1.
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PHACE syndrome and hearing loss.PHACE综合征与听力损失
An Bras Dermatol. 2019 Oct 17;94(4):489-490. doi: 10.1590/abd1806-4841.20197729. eCollection 2019.
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Hemangioma, aortic coarctation and intracranial dolichoectasia: PHACE syndrome.血管瘤、主动脉缩窄和颅内动脉迂曲扩张：PHACE综合征。
Pediatr Int. 2017 Feb;59(2):230-233. doi: 10.1111/ped.13177.
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PHACES Syndrome with Intestinal Hemangiomatosis.伴有肠道血管瘤病的PHACES综合征
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Orphanet J Rare Dis. 2025 Jul 7;20(1):345. doi: 10.1186/s13023-025-03899-7.
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Masses of the fetal neck and oral cavity.胎儿颈部和口腔肿物。
Pediatr Radiol. 2025 Jun 25. doi: 10.1007/s00247-025-06307-1.
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From a Facial Hemangioma to a Critical Diagnosis: Uncovering Coarctation of the Aorta in an Infant.从面部血管瘤到关键诊断：发现婴儿主动脉缩窄

本文引用的文献

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Aortic arch repair in children with PHACE syndrome.儿童肺动脉高压合并额面血管瘤综合征的主动脉弓修复。
J Thorac Cardiovasc Surg. 2016 Sep;152(3):709-17. doi: 10.1016/j.jtcvs.2016.03.082. Epub 2016 Apr 14.
2
Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?伴有颅内血管异常和血管瘤的眼眶血管瘤：PHACE综合征的一种新表现？
Pediatr Dermatol. 2015 Nov-Dec;32(6):e267-72. doi: 10.1111/pde.12695. Epub 2015 Oct 8.
3
Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome.
J Am Coll Emerg Physicians Open. 2025 May 22;6(4):100176. doi: 10.1016/j.acepjo.2025.100176. eCollection 2025 Aug.
4
A Multimodal Approach to a Complex PHACES Patient With Progressive Infantile Hemangioma: A Case Report and Review of Literature.一种针对患有进行性婴儿血管瘤的复杂PHACES患者的多模态治疗方法：病例报告及文献综述
Cureus. 2025 Mar 8;17(3):e80261. doi: 10.7759/cureus.80261. eCollection 2025 Mar.
5
Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta.病例报告：患有PHACE综合征的两个月大婴儿：面部血管瘤和严重复杂的主动脉缩窄。
Front Cardiovasc Med. 2025 Feb 3;12:1539168. doi: 10.3389/fcvm.2025.1539168. eCollection 2025.
6
The Evaluation, Diagnosis, and Management of Infantile Hemangiomas-A Comprehensive Review.婴儿血管瘤的评估、诊断与管理——全面综述
J Clin Med. 2025 Jan 10;14(2):425. doi: 10.3390/jcm14020425.
7
An unusual case of unilateral vascular hypoplasia in an adult patient - late diagnosis of PHACE syndrome.一名成年患者单侧血管发育不全的罕见病例——PHACE综合征的晚期诊断
Int J Cardiol Congenit Heart Dis. 2023 Jun 30;13:100465. doi: 10.1016/j.ijcchd.2023.100465. eCollection 2023 Sep.
8
Pathology of explanted pediatric hearts: An 11-year study. Population characteristics and implications for outcomes.小儿心脏移植术后病理学研究：11 年研究。人群特征及其对预后的影响。
Pediatr Transplant. 2024 Jun;28(4):e14742. doi: 10.1111/petr.14742.
9
Beyond Infantile Hemangiomas: A Glimpse into Overlapping Rare Syndromes Emphasizing the Vigilant Screening for PHACE and LUMBAR Syndromes.超越婴儿血管瘤：深入了解重叠罕见综合征，强调对PHACE和腰椎综合征的警惕性筛查。
Case Rep Pediatr. 2024 Apr 18;2024:7501793. doi: 10.1155/2024/7501793. eCollection 2024.
10
PHACE syndrome: a case report and a comprehensive review.PHACE综合征：一例病例报告及全面综述
Ann Med Surg (Lond). 2024 Jan 25;86(4):2286-2291. doi: 10.1097/MS9.0000000000001759. eCollection 2024 Apr.
PHACE综合征中头痛的患病率及临床特征
J Child Neurol. 2016 Mar;31(4):468-73. doi: 10.1177/0883073815599261. Epub 2015 Aug 13.
4
Development and Validation of a Quality-of-Life Instrument for Infantile Hemangiomas.婴幼儿血管瘤生活质量评估量表的制定与验证。
J Invest Dermatol. 2015 Jun;135(6):1533-1539. doi: 10.1038/jid.2015.18. Epub 2015 Jan 23.
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Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry).PHACE 综合征中的先天性心脏、主动脉弓和血管床异常（来自国际 PHACE 综合征登记处）。
Am J Cardiol. 2013 Dec 15;112(12):1948-52. doi: 10.1016/j.amjcard.2013.08.025. Epub 2013 Sep 28.
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Propranolol use in PHACE syndrome with cervical and intracranial arterial anomalies: collective experience in 32 infants.普萘洛尔用于伴有颈部和颅内动脉异常的PHACE综合征：32例婴儿的集体经验
Pediatr Dermatol. 2013 Jan-Feb;30(1):71-89. doi: 10.1111/j.1525-1470.2012.01879.x. Epub 2012 Sep 20.
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A case of congenital hypothyroidism in PHACE syndrome.PHACE综合征合并先天性甲状腺功能减退症1例。
J Pediatr Endocrinol Metab. 2012;25(5-6):603-5. doi: 10.1515/jpem-2012-0002.
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The psychosocial impact of an infantile haemangioma on children and their parents.婴幼儿血管瘤对儿童及其父母的心理社会影响。
Arch Dis Child. 2012 Oct;97(10):922-6. doi: 10.1136/archdischild-2012-302470. Epub 2012 Aug 4.
9
Neurodevelopmental abnormalities in children with PHACE syndrome.PHACE综合征患儿的神经发育异常。
J Child Neurol. 2013 May;28(5):608-14. doi: 10.1177/0883073812450073. Epub 2012 Jul 17.
10
A case of phace syndrome and acquired hypopituitarism?一例法斯综合征与获得性垂体功能减退症？
Int J Pediatr Endocrinol. 2012 Jun 30;2012(1):20. doi: 10.1186/1687-9856-2012-20.