Quiz Case #1
A 3 year-old girl presents with a bright red macular, segmental patch over the right side of her forehead and upper eyelid since birth. There was no history of any vision problem, seizures, or developmental delay.
A 3 year-old girl presents with a bright red macular, segmental patch over the right side of her forehead and upper eyelid since birth. There was no history of any vision problem, seizures, or developmental delay.
Port wine stain (PWS), also known as congenital capillary vascular malformation is one of the most common congenital vascular anomalies, which presents at birth and persists for life. The prevalence of PWS is estimated at three to five children per 1000 live births. PWS initially appears as flat red macules in childhood; lesions tend to darken progressively to purple with soft tissue hypertrophy and, by middle age, often become raised as a result of the development of vascular nodules which are susceptible to spontaneous bleeding or hemorrhage.
Approximately 15–20% of children with an ophthalmic (V1) dermatomal facial PWS are at risk for Sturge-Weber syndrome (SWS), a neurocutaneous disorder with vascular malformations in the cerebral cortex on the same side of the facial PWS. Seizures, glaucoma, cerebral cortex atrophy, developmental delay and intellectual impairments commonly occur in infancy and may worsen with age.
SWS can be diagnosed by typical clinical symptoms, facial appearance of the PWS and brain MRI. Moreover, imaging systems, such as Doppler, computed tomography (CT) or magnetic resonance imaging (MRI), can be helpful in determining any possible vascular malformations located in deep tissues, e.g., cerebral vascular malformations or AVM. Waelchli et al (2014) suggested children with a PWS on any part of the ‘forehead’ should have an urgent ophthalmology review and a brain MRI.
References:
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Nguyen V, Hochman M, Mihm MC, Nelson JS, Tan W. The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. Int J Mol Sci 2019;20(9):2243
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Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA. New vascular classification of port-wine stains: improving prediction of Sturge- Weber risk. British Journal of Dermatology 2014;171(4):861–867
Author:
July Iriani Rahardja
MD
Department of Dermatology and Venereology, Karya Medika Hospital in Bekasi
Indonesia
Port wine stain (PWS), also known as congenital capillary vascular malformation is one of the most common congenital vascular anomalies, which presents at birth and persists for life. The prevalence of PWS is estimated at three to five children per 1000 live births. PWS initially appears as flat red macules in childhood; lesions tend to darken progressively to purple with soft tissue hypertrophy and, by middle age, often become raised as a result of the development of vascular nodules which are susceptible to spontaneous bleeding or hemorrhage.
Approximately 15–20% of children with an ophthalmic (V1) dermatomal facial PWS are at risk for Sturge-Weber syndrome (SWS), a neurocutaneous disorder with vascular malformations in the cerebral cortex on the same side of the facial PWS. Seizures, glaucoma, cerebral cortex atrophy, developmental delay and intellectual impairments commonly occur in infancy and may worsen with age.
SWS can be diagnosed by typical clinical symptoms, facial appearance of the PWS and brain MRI. Moreover, imaging systems, such as Doppler, computed tomography (CT) or magnetic resonance imaging (MRI), can be helpful in determining any possible vascular malformations located in deep tissues, e.g., cerebral vascular malformations or AVM. Waelchli et al (2014) suggested children with a PWS on any part of the ‘forehead’ should have an urgent ophthalmology review and a brain MRI.
References:
-
Nguyen V, Hochman M, Mihm MC, Nelson JS, Tan W. The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. Int J Mol Sci 2019;20(9):2243
-
Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA. New vascular classification of port-wine stains: improving prediction of Sturge- Weber risk. British Journal of Dermatology 2014;171(4):861–867
Author:
July Iriani Rahardja
MD
Department of Dermatology and Venereology, Karya Medika Hospital in Bekasi
Indonesia