title: A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain.
abstract: BACKGROUND
  Upper facial port-wine stain (PWS) is a feature of Sturge-Weber syndrome (SWS). Recent studies suggest that the distribution of the PWS corresponds to genetic mosaicism rather than to trigeminal nerve impairment.
  
  
  OBJECTIVE
  We sought to refine the cutaneous distribution of upper facial PWS at risk for SWS.
  
  
  METHODS
  This was a prospective multicenter study of consecutive cases of upper facial PWS larger than 1 cm² located in the ophthalmic division of trigeminal nerve distribution in infants aged less than 1 year, seen in 8 French pediatric dermatology departments between 2006 and 2012. Clinical data, magnetic resonance imaging, and photographs were systematically collected and studied. PWS were classified into 6 distinct patterns.
  
  
  RESULTS
  In all, 66 patients were included. Eleven presented with SWS (magnetic resonance imaging signs and seizure). Four additional infants had suspected SWS without neurologic manifestations. Hemifacial (odds ratio 7.7, P = .003) and median (odds ratio 17.08, P = .008) PWS patterns were found to be at high risk for SWS. A nonmedian linear pattern was not associated with SWS.
  
  
  CONCLUSIONS
  Small number of patients translated to limited power of the study.
  
  
  CONCLUSIONS
  Specific PWS distribution patterns are associated with an increased risk of SWS. These PWS patterns conform to areas of somatic mosaicism. Terminology stipulating ophthalmic division of trigeminal nerve territory involvement in SWS should be abandoned.
authors.affiliation: Department of Dermatology and Pediatric Dermatology, Pellegrin Children's Hospital, Bordeaux, France; National Center for Rare Skin Disorders-Institut National de la Santé Et de la Recherche Médicale (INSERM) U1035, Bordeaux Segalen University, Bordeaux, France. Electronic address: annesophie.dutkiewicz@gmail.com.
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: Dutkiewicz
authors.affiliation: Department of Dermatology and Pediatric Dermatology, Pellegrin Children's Hospital, Bordeaux, France; National Center for Rare Skin Disorders-Institut National de la Santé Et de la Recherche Médicale (INSERM) U1035, Bordeaux Segalen University, Bordeaux, France.
authors.forename: Khaled
authors.initials: K
authors.lastname: Ezzedine
authors.affiliation: Department of Dermatology, National Center for Rare Skin Disorders, Larrey Hospital, Toulouse, France.
authors.forename: Juliette
authors.initials: J
authors.lastname: Mazereeuw-Hautier
authors.affiliation: Department of Dermatology, Archet-2 Hospital, Nice, France.
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Lacour
authors.affiliation: Department of Dermatology, Hôtel-Dieu Hospital, Nantes, France.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Barbarot
authors.affiliation: Department of Dermatology, Bocage Hospital, and Bourgogne Medical University, Dijon, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Vabres
authors.affiliation: Department of Dermatology, Rennes University Hospital, Rennes, France.
authors.forename: Juliette
authors.initials: J
authors.lastname: Miquel
authors.affiliation: Department of Dermatology, Charles Nicolle Hospital, Rouen, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Balguerie
authors.affiliation: Department of Dermatology, Angers University Hospital, Angers, France.
authors.forename: Ludovic
authors.initials: L
authors.lastname: Martin
authors.affiliation: Department of Dermatology and Pediatric Dermatology, Pellegrin Children's Hospital, Bordeaux, France; National Center for Rare Skin Disorders-Institut National de la Santé Et de la Recherche Médicale (INSERM) U1035, Bordeaux Segalen University, Bordeaux, France.
authors.forename: Franck
authors.initials: F
authors.lastname: Boralevi
authors.affiliation: Department of Pediatric Radiology, Pellegrin Children's Hospital, Bordeaux, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Bessou
authors.affiliation: Department of Pediatric Radiology, Pellegrin Children's Hospital, Bordeaux, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Chateil
authors.affiliation: Department of Dermatology and Pediatric Dermatology, Pellegrin Children's Hospital, Bordeaux, France; National Center for Rare Skin Disorders-Institut National de la Santé Et de la Recherche Médicale (INSERM) U1035, Bordeaux Segalen University, Bordeaux, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Léauté-Labrèze
mesh_terms: D005145:Face; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D019339:Port-Wine Stain / Q000473:pathology*; D011446:Prospective Studies; D018570:Risk Assessment; D013341:Sturge-Weber Syndrome / Q000150:complications / Q000453:epidemiology* / Q000473:pathology*
keywords: Blaschko lines; Sturge-Weber syndrome; embryonic craniofacial development; facial pattern; guanine nucleotide-binding protein alpha-q (GNAQ) gene; leptomeningeal angiomata; magnetic resonance imaging; somatic mosaicism; upper facial port-wine stain