title: Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation.
abstract: Multifocal capillary malformation (CM) is the cardinal feature of patients with RASA1 mutations. These CMs are 'red flags', signalling the possible association with an arteriovenous malformation (AVM) or an arteriovenous fistula (AVF). We report an 8-year-old boy who presented with > 20 CMs, who was found to have a novel mutation in the RASA1 gene. Radiological screening of children with RASA1 mutations is not standardized, and we elected to carry out baseline magnetic resonance imaging of the brain and spine in our case, which gave normal results. We discuss the recent literature and our approach in the management of such a case.
authors.affiliation: Department of Dermatology, Royal Victoria Infirmary, Newcastle Upon Tyne, Tyne and Wear, UK.
authors.forename: S
authors.initials: S
authors.lastname: Whitaker
authors.affiliation: Department of Dermatology, Royal Victoria Infirmary, Newcastle Upon Tyne, Tyne and Wear, UK.
authors.forename: S
authors.initials: S
authors.lastname: Leech
authors.affiliation: Department of Dermatology, Royal Victoria Infirmary, Newcastle Upon Tyne, Tyne and Wear, UK.
authors.forename: A
authors.initials: A
authors.lastname: Taylor
authors.affiliation: Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne, Tyne and Wear, UK.
authors.forename: M
authors.initials: M
authors.lastname: Splitt
authors.affiliation: Department of Dermatology, The James Cook University Hospital, Middlesbrough, UK.
authors.forename: S
authors.initials: S
authors.lastname: Natarajan
authors.affiliation: Department of Dermatology, Royal Victoria Infirmary, Newcastle Upon Tyne, Tyne and Wear, UK.|Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne, Tyne and Wear, UK.
authors.forename: N
authors.initials: N
authors.lastname: Rajan
mesh_terms: D002196:Capillaries / Q000002:abnormalities*; D002648:Child; D005091:Exons; D006801:Humans; D008297:Male; D009154:Mutation; D054079:Vascular Malformations / Q000235:genetics*; D020729:p120 GTPase Activating Protein / Q000235:genetics*
chemical_list: C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein