Literature DB >> 31976140

PHACE Syndrome: A Rare Case.

Ceylan Altintas Taslicay1, Elmire Dervisoglu1, Ercument Ciftci1, Funda Corapcioglu2, Yonca Anik1.   

Abstract

PHACE syndrome (OMIM 606519) is a rare neurocutaneous vascular disorder, characterized by posterior fossa malformations, large cervicofacial infantile hemangiomas, arterial anomalies, aortic coarctation, cardiac abnormalities, and eye abnormalities. The long-term outcome of PHACE syndrome patients is unclear; however, it seems that they are at risk for childhood stroke. The radiologist has an important role on diagnosis of PHACE syndrome and in the assessment of potential complications. Investigation of infants with segmental craniofacial hemangiomas should include cranial magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the cerebral and cervical arteries. Brain MRI and MRA findings of a 5-year-old female patient with PHACE syndrome are presented. © Thieme Medical Publishers.

Entities:  

Keywords:  PHACE syndrome; childhood stroke; magnetic resonance angiography

Year:  2019        PMID: 31976140      PMCID: PMC6976313          DOI: 10.1055/s-0039-1694705

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  8 in total

1.  Risk for PHACE syndrome in infants with large facial hemangiomas.

Authors:  Anita N Haggstrom; Maria C Garzon; Eulalia Baselga; Sarah L Chamlin; Ilona J Frieden; Kristen Holland; Sheilagh Maguiness; Anthony J Mancini; Catherine McCuaig; Denise W Metry; Kimberly Morel; Julie Powell; Susan M Perkins; Dawn Siegel; Beth A Drolet
Journal:  Pediatrics       Date:  2010-07-19       Impact factor: 7.124

Review 2.  The many faces of PHACE syndrome.

Authors:  D W Metry; C F Dowd; A J Barkovich; I J Frieden
Journal:  J Pediatr       Date:  2001-07       Impact factor: 4.406

3.  PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.

Authors:  Jennifer Bracken; Ian Robinson; Aisling Snow; Rosemarie Watson; Alan D Irvine; David Rea; Ethna Phelan
Journal:  Pediatr Radiol       Date:  2011-06-15

4.  Ulcerated hemangiomas: clinical characteristics and response to therapy.

Authors:  H J Kim; M Colombo; I J Frieden
Journal:  J Am Acad Dermatol       Date:  2001-06       Impact factor: 11.527

5.  PHACE syndrome, a series of six patients: clinical and morphological manifestations, propranolol efficacy, and safety.

Authors:  Guillaume Bellaud; Eve Puzenat; Nora Célia Billon-Grand; Philippe Humbert; François Aubin
Journal:  Int J Dermatol       Date:  2014-06-25       Impact factor: 2.736

Review 6.  PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.

Authors:  Maria C Garzon; Leon G Epstein; Geoffrey L Heyer; Peter C Frommelt; Darren B Orbach; Adriane L Baylis; Francine Blei; Patricia E Burrows; Sarah L Chamlin; Robert H Chun; Christopher P Hess; Shawna Joachim; Katherine Johnson; Wendy Kim; Marilyn G Liang; Mohit Maheshwari; Garrett N McCoy; Denise W Metry; Priya A Monrad; Elena Pope; Julie Powell; Tor A Shwayder; Dawn H Siegel; Megha M Tollefson; Sudhakar Vadivelu; Sean M Lew; Ilona J Frieden; Beth A Drolet
Journal:  J Pediatr       Date:  2016-09-19       Impact factor: 4.406

7.  Consensus Statement on Diagnostic Criteria for PHACE Syndrome.

Authors:  Denise Metry; Geoffrey Heyer; Christopher Hess; Maria Garzon; Anita Haggstrom; Peter Frommelt; Denise Adams; Dawn Siegel; Karla Hall; Julie Powell; Ilona Frieden; Beth Drolet
Journal:  Pediatrics       Date:  2009-10-26       Impact factor: 7.124

Review 8.  PHACE syndrome: clinical manifestations, diagnostic criteria, and management.

Authors:  Anita Rotter; Luciana Paula Samorano; Maria Cecília Rivitti-Machado; Zilda Najjar Prado Oliveira; Bernardo Gontijo
Journal:  An Bras Dermatol       Date:  2018-06       Impact factor: 1.896

  8 in total

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