Neurocutaneous vascular syndromes.
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.
Puttgen
Katherine B
KB
Department of Dermatology, Division of Pediatric Dermatology, Johns Hopkins Hospital, 200 North Wolfe Street, Unit 2107, Baltimore, MD 21287, USA. kbrown83@jhmi.edu
Lin
Doris D M
DD
D001017:Aortic Coarctation / Q000235:genetics / Q000503:physiopathology; D002648:Child; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology; D005124:Eye Abnormalities / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D058627:Megalencephaly / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D013341:Sturge-Weber Syndrome / Q000175:diagnosis / Q000235:genetics; D020729:p120 GTPase Activating Protein / Q000235:genetics*
D020729:p120 GTPase Activating Protein