Role of colour‐Doppler high‐frequency ultrasonography in capillary malformation‐arteriovenous malformation syndrome: a case series

High‐frequency ultrasonography (HFUS) represents a useful adjunct for dermatologists in the diagnosis of capillary malformation‐arteriovenous malformation (CM‐AVM) syndrome. We present a paediatric case series of 6 patients with confirmed RASA1 gene mutation in whom HFUS demonstrated AVM beneath cut...

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Bibliographic Details
Published in:Australasian journal of dermatology 2020-11, Vol.61 (4), p.349-352
Main Authors: Rodríguez Bandera, Ana Isabel, Feito Rodríguez, Marta, Chiloeches Fernández, Clara, Stewart, Nicholas, Valdivielso‐Ramos, Marta
Format: Article
Language:English
Subjects:
arteriovenous malformation
capillary malformation
Capillary malformation‐arteriovenous malformation
Doppler effect
Point mutation
RASA1 protein
Ultrasonic imaging
ultrasonography
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Summary:High‐frequency ultrasonography (HFUS) represents a useful adjunct for dermatologists in the diagnosis of capillary malformation‐arteriovenous malformation (CM‐AVM) syndrome. We present a paediatric case series of 6 patients with confirmed RASA1 gene mutation in whom HFUS demonstrated AVM beneath cutaneous CM‐like lesions greater than 1.5 cm.
ISSN:0004-8380
1440-0960
DOI:10.1111/ajd.13311