Document Detail

Neurocutaneous vascular syndromes.
MedLine Citation:
PMID:  20582592     Owner:  NLM     Status:  MEDLINE    
There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1. There have also been advances in the understanding and management of Sturge-Weber syndrome.PHACE syndrome is a constellation of neurologic, arterial, cardiac, ophthalmologic, and sternal abnormalities associated with infantile hemangiomas. PHACE is an acronym for Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of the aorta, Eye abnormalities. Some authors include an "S" for PHACE(S) to denote the association of ventral defects including Sternal clefting and Supraumbilical raphe.The accurate diagnosis and work-up of these patients require coordination of care across multiple disciplines, including neuroradiology, radiology, dermatology, neurology, surgery, and interventional radiology, among others.This paper is meant to update clinicians and researchers about important advances in these rare, important vascular syndromes, to improve care, and lay the foundation for future directions for research.
Katherine B Puttgen; Doris D M Lin
Publication Detail:
Type:  Journal Article; Review     Date:  2010-06-27
Journal Detail:
Title:  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery     Volume:  26     ISSN:  1433-0350     ISO Abbreviation:  Childs Nerv Syst     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-13     Completed Date:  2010-12-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8503227     Medline TA:  Childs Nerv Syst     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1407-15     Citation Subset:  IM    
Department of Dermatology, Division of Pediatric Dermatology, Johns Hopkins Hospital, 200 North Wolfe Street, Unit 2107, Baltimore, MD 21287, USA.
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MeSH Terms
Aortic Coarctation / genetics,  physiopathology
Cranial Fossa, Posterior / abnormalities*
Craniofacial Abnormalities / genetics,  physiopathology
Eye Abnormalities / genetics,  physiopathology
Macrocephaly / genetics,  physiopathology
Neurocutaneous Syndromes / diagnosis*,  genetics*,  physiopathology,  therapy
Sturge-Weber Syndrome / diagnosis,  genetics
p120 GTPase Activating Protein / genetics*
Reg. No./Substance:
0/p120 GTPase Activating Protein

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