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Clin Exp Dermatol. 2016 Mar;41(2):156-8. doi: 10.1111/ced.12696. Epub 2015 Jun 30.

Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation.

Author information

1
Department of Dermatology, Royal Victoria Infirmary, Newcastle Upon Tyne, Tyne and Wear, UK.
2
Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne, Tyne and Wear, UK.
3
Department of Dermatology, The James Cook University Hospital, Middlesbrough, UK.

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.

PMID:
26132338
PMCID:
PMC4762539
DOI:
10.1111/ced.12696
[Indexed for MEDLINE]
Free PMC Article

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