A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain |
| Type de publication | Journal Article |
| Year of Publication | 2015 |
| Auteurs | Dutkiewicz A-S, Ezzedine K, Mazereeuw-Hautier J, Lacour J-P, Barbarot S, Vabres P, Miquel J, Balguerie X, Martin L, Boralevi F, Bessou P, Chateil J-F, Leaute-Labreze C, Pediat GRech Clin |
| Journal | JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY |
| Volume | 72 |
| Pagination | 473-480 |
| Date Published | MAR |
| Type of Article | Article |
| ISSN | 0190-9622 |
| Mots-clés | Blaschko lines, embryonic craniofacial development, facial pattern, guanine nucleotide-binding protein alpha-q (GNAQ) gene, leptomeningeal angiomata, magnetic resonance imaging, somatic mosaicism, Sturge-Weber syndrome, upper facial port-wine stain |
| Résumé | {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. Objectives: 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 cm 2 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 |
| DOI | 10.1016/j.jaad.2014.11.009 |