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

Dutkiewicz, A.-S.; Ezzedine, Khaled; Mazereeuw‐Hautier, J.; Lacour, Jean‐Philippe; Barbarot, S.; Vabres, P.; Miquel, J.; Balguérie, X.; Martin, Ludovic; Boralévi, F.; Bessou, P; Chateil, Jean‐François; Léauté‐Labrèze, Christine

doi:10.1016/j.jaad.2014.11.009

Cited by 74 publications

(75 citation statements)

References 20 publications

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“…Recently identified as a form of somatic mosacism, PWS phenotypes involving specific embryonic facial prominences (Figure A) have been determined to better predict the risk of SWS than involvement of the first division of the trigeminal dermatome . Waelchli and colleagues described “forehead” region involvement (Figure B) as the strongest predictor of SWS .…”

Section: Results Of the Literature Reviewmentioning

confidence: 99%

Screening for Sturge‐Weber syndrome: A state‐of‐the‐art review

Zallmann

Leventer

Mackay

et al. 2017

Pediatric Dermatology

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Infants with a high-risk distribution of port-wine stains are commonly screened for Sturge-Weber syndrome using brain magnetic resonance imaging. There is no consensus about which port-wine stain phenotypes to screen, optimal timing, screening sensitivity, or whether presymptomatic diagnosis improves neurodevelopmental outcomes. This state-of-the-art review examines the evidence in favor of screening for Sturge-Weber syndrome, based on its effect on neurodevelopmental outcomes, against the risks and limitations of screening magnetic resonance imaging and electroencephalography. A literature search of PubMed/MEDLINE was conducted between January 2005 and May 2017 using key search terms. Relevant articles published in English were reviewed; 34 articles meeting the search criteria were analyzed according to the following outcome measures: neurodevelopmental outcome benefit of screening, diagnostic yield, financial costs, procedural risks, and limitations of screening magnetic resonance imaging and electroencephalography. There is no evidence that a presymptomatic Sturge-Weber syndrome diagnosis with magnetic resonance imaging results in better neurodevelopmental outcomes. The utility of electroencephalographic screening is also unestablished. In Sturge-Weber syndrome, neurodevelopmental outcomes depend on prompt recognition of neurologic red flags and early seizure control. Small numbers and a lack of prospective randomized controlled trials limit these findings. For infants with port-wine stain involving skin derived from the frontonasal placode (forehead and hemifacial phenotypes), we recommend early referral to a pediatric neurologist for parental education, counselling, and monitoring for neurologic red flags and seizures and consideration of electroencephalography regardless of whether magnetic resonance imaging is performed or its findings. K E Y W O R D Selectroencephalography, epilepsy, magnetic resonance imaging, neurodevelopmental outcomes, port-wine stain, screening, Sturge-Weber syndrome

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Section: Results Of the Literature Reviewmentioning

confidence: 99%

Screening for Sturge‐Weber syndrome: A state‐of‐the‐art review

Zallmann

Leventer

Mackay

et al. 2017

Pediatric Dermatology

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“…Until today, the general belief prevails that facial naevi flammei reflect the arrangement of the trigeminal branches . The recently published molecular findings, however, support the iconoclastic view that this time‐honoured dogma is wrong …”

Section: Capillary Naevimentioning

confidence: 91%

Capillary malformations: a classification using specific names for specific skin disorders

Happle

2015

Acad Dermatol Venereol

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The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Capillary lesions that perhaps represent naevi are the mesotropic port-wine patch, Carter-Mirzaa macules, unilateral punctate telangiectasia and unilateral naevoid telangiectasia of the patchy type. Capillary malformations that do not represent naevi include X-linked angiokeratoma corporis diffusum (Fabry disease), autosomal dominant angiokeratoma corporis diffusum, hereditary haemorrhagic telangiectasia, hereditary angioma serpiginosusm and the salmon patch. In this way, we are able to discriminate between various non-hereditary capillary naevi such as naevus roseus and the hereditary rhodoid naevus and several hereditary traits that do not represent naevi such as angiokeratoma corporis diffusum and hereditary haemorrhagic telangiectasia; between four different types of port-wine stains, three of them being lateralized and one being mesotropic; between cutis marmorata telangiectatica congenita and congenital livedo reticularis; between telangiectatic naevi and the vasoconstrictive naevus anaemicus; and between two different types of angiokeratoma corporis diffusum. Finally, arguments are presented why the salmon patch ('stork bite', 'naevus simplex') cannot be categorized as a naevus.

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“…Many studies shed light on the relationship between the phenotype of certain dermatologic anomalies and the risk of extracutaneous involvement. For example, a specific vascular malformation pattern affecting regions derived from the frontonasal placode is recognized to carry an increased risk of Sturge‐Weber syndrome . In this study, we analyzed the phenotype of 106 children with patterned cutaneous hypopigmentation (PCH) and verified whether certain patterns or distribution of lesions correlated with a higher prevalence of extracutaneous findings (hypomelanosis of Ito phenotype).…”

Section: Introductionmentioning

confidence: 97%

Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children

Belzile

McCuaig

Meur

et al. 2019

Pediatric Dermatology

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Background Cutaneous patterned hypopigmentation's phenotype is highly variable and may be associated with extracutaneous anomalies. Objective We evaluated the phenotypic and clinical characteristics of patients with cutaneous patterned hypopigmentation to determine whether certain patterns were more likely to be associated with underlying anomalies. Methods The charts of 106 children with cutaneous patterned hypopigmentation were reviewed retrospectively (2007‐2018) at Sainte‐Justine University Hospital Centre, in Montreal, Canada. Retrieved information included sex, age at diagnosis, phototype, pattern, and distribution of the cutaneous lesions and the presence of extracutaneous findings. Data were recorded on a software tool which collects and analyzes phenotypic information. Results The predominant types of cutaneous patterned hypopigmentation were along Blaschko's lines in narrow (38.7%) and broad bands (53.8%). Mixed patterns were observed in 22.5% of children. The anterior trunk and posterior trunk were most frequently affected (69% and 56%, respectively). Extracutaneous involvement, especially neurological and developmental, was present in 28.3% of patients and was significantly associated with ≥ 4 involved body sites. Conclusion Distribution and types of cutaneous patterned hypopigmentation were not predictive of extracutaneous findings, with the exception of multiple sites involvement and possibly centrofacial location and blocklike lesions. Follow‐up until school entry should help identify subtler associated extracutaneous anomalies.

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

Cited by 74 publications

References 20 publications

Screening for Sturge‐Weber syndrome: A state‐of‐the‐art review

Screening for Sturge‐Weber syndrome: A state‐of‐the‐art review

Capillary malformations: a classification using specific names for specific skin disorders

Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children

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