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

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...

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Autores principales: Whitaker, S., Leech, S., Taylor, A., Splitt, M., Natarajan, S., Rajan, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Clinical Dermatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4762539/
https://www.ncbi.nlm.nih.gov/pubmed/26132338
http://dx.doi.org/10.1111/ced.12696
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author Whitaker, S.
Leech, S.
Taylor, A.
Splitt, M.
Natarajan, S.
Rajan, N.
author_facet Whitaker, S.
Leech, S.
Taylor, A.
Splitt, M.
Natarajan, S.
Rajan, N.
author_sort Whitaker, S.
collection PubMed
description 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.
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spelling pubmed-47625392016-03-03 Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation Whitaker, S. Leech, S. Taylor, A. Splitt, M. Natarajan, S. Rajan, N. Clin Exp Dermatol Clinical Dermatology 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. John Wiley and Sons Inc. 2015-06-30 2016-03 /pmc/articles/PMC4762539/ /pubmed/26132338 http://dx.doi.org/10.1111/ced.12696 Text en © 2015 The Authors. Clinical and Experimental Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists, North American Clinical Dermatologic Society and St Johns Dermatological Society. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Dermatology
Whitaker, S.
Leech, S.
Taylor, A.
Splitt, M.
Natarajan, S.
Rajan, N.
Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation
title Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation
title_full Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation
title_fullStr Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation
title_full_unstemmed Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation
title_short Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation
title_sort multifocal capillary malformations in an older, asymptomatic child with a novel rasa1 mutation
topic Clinical Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4762539/
https://www.ncbi.nlm.nih.gov/pubmed/26132338
http://dx.doi.org/10.1111/ced.12696
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