Anne-Sophie Dutkiewicz1, Khaled Ezzedine2, Juliette Mazereeuw-Hautier3, Jean-Philippe Lacour4, Sébastien Barbarot5, Pierre Vabres6, Juliette Miquel7, Xavier Balguerie8, Ludovic Martin9, Franck Boralevi2, Pierre Bessou10, Jean-François Chateil10, Christine Léauté-Labrèze2. 1. 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. 2. 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. 3. Department of Dermatology, National Center for Rare Skin Disorders, Larrey Hospital, Toulouse, France. 4. Department of Dermatology, Archet-2 Hospital, Nice, France. 5. Department of Dermatology, Hôtel-Dieu Hospital, Nantes, France. 6. Department of Dermatology, Bocage Hospital, and Bourgogne Medical University, Dijon, France. 7. Department of Dermatology, Rennes University Hospital, Rennes, France. 8. Department of Dermatology, Charles Nicolle Hospital, Rouen, France. 9. Department of Dermatology, Angers University Hospital, Angers, France. 10. Department of Pediatric Radiology, Pellegrin Children's Hospital, Bordeaux, France.
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. 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 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. LIMITATIONS: 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.
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 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. LIMITATIONS: 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.
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