A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain  

Oleh:

Dutkiewicz, Anne-Sophie ; Ezzedine, Khaled ; Mazereeuw-Hautier, Juliette ; Lacour, Jean-Philippe

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: JAAD: Journal of the American Academy of Dermatology (keterangan: ada di ClinicalKey) vol. 72 no. 03 (Mar. 2015), page 473-480.
Topik: 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

Ketersediaan

Perpustakaan FK Nomor Panggil: J15.K Non-tandon: tidak ada Tandon: 1

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Isi artikel

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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