[Diagnostic criteria and treatment progress of PHACE syndrome]
- PMID: 29972952
- DOI: 10.3760/cma.j.issn.1002-0098.2017.11.011
[Diagnostic criteria and treatment progress of PHACE syndrome]
Abstract
PHACE syndrome is a syndrome of multiple organ and multisystem abnormalities associated with infantile segmental hemangioma, characterized by abnormal posterior fossa development, infant hemangioma, aortic abnormalities, aortic coarctation and heart defects, eye anomalies and other symptoms. The incidence of the disease is low, but there exist life-threatening factors. Once clinically diagnosed, it should be highly valued and multidisciplinary consultation must be conducted. This article reviews the diagnostic criteria of PHACE syndrome and its associated facial segmental hemangioma, as well as the treatment and prognosis of brain abnormalities.
PHACE综合征是面部节段性婴幼儿血管瘤相关的多器官多系统异常的神经皮肤综合征,表现为颅后窝发育异常、婴幼儿血管瘤、大动脉异常、主动脉缩窄和心脏缺陷、眼部异常等症状。该病发病率较低,但是存在危及生命的高风险因素。在临床中一经确诊即需要高度重视,必须进行多学科会诊。本文对PHACE综合征的诊断标准及其相关面部节段性血管瘤、脑部发育异常的治疗和预后进行综述。.
Keywords: Diagnostic criteria; Hemangioma; PHACE syndrome; Treatment.
Similar articles
-
[Children with infantile haemangiomas should be worked-up for PHACE syndrome].Ugeskr Laeger. 2013 Sep 9;175(37):2118-9. Ugeskr Laeger. 2013. PMID: 24011212 Danish.
-
PHACE syndrome associated with club foot and thumb-in-palm deformity.J Dermatol. 2012 Dec;39(12):1054-5. doi: 10.1111/j.1346-8138.2012.01588.x. Epub 2012 Jun 1. J Dermatol. 2012. PMID: 22671438 No abstract available.
-
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.J Pediatr. 2016 Nov;178:24-33.e2. doi: 10.1016/j.jpeds.2016.07.054. Epub 2016 Sep 19. J Pediatr. 2016. PMID: 27659028 Free PMC article. Review. No abstract available.
-
Gigantic vascular anomaly in a PHACE syndrome patient managed with photodynamic therapy.Photodiagnosis Photodyn Ther. 2016 Sep;15:79-82. doi: 10.1016/j.pdpdt.2016.05.007. Epub 2016 May 24. Photodiagnosis Photodyn Ther. 2016. PMID: 27229363 No abstract available.
-
PHACE syndrome: clinical manifestations, diagnostic criteria, and management.An Bras Dermatol. 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. An Bras Dermatol. 2018. PMID: 29924216 Free PMC article. Review.
Cited by
-
Manifestation of a Vestibular Schwannoma in a Patient With PHACE Syndrome.Cureus. 2025 Feb 13;17(2):e78946. doi: 10.7759/cureus.78946. eCollection 2025 Feb. Cureus. 2025. PMID: 40091915 Free PMC article.
-
PHACE syndrome: looking backward and forward.Orphanet J Rare Dis. 2025 Jul 7;20(1):345. doi: 10.1186/s13023-025-03899-7. Orphanet J Rare Dis. 2025. PMID: 40624699 Free PMC article. Review.
Publication types
MeSH terms
Supplementary concepts
LinkOut - more resources
Full Text Sources