Multiple capillary malformations of progressive onset: Capillary malformation-arteriovenous malformation syndrome (CM-AVM)

Abstract

Background: Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder first described in 2003.

Patients and methods: An 8-year-old girl was referred for the progressive appearance of multiple capillary malformations in childhood, evocative of CM-AVM syndrome. Molecular analysis of the RASA1 gene revealed a mutation but further examinations did not show arteriovenous malformation.

Discussion: CM-AVM syndrome is an autosomal dominant disease caused by RASA1 gene mutations. More than 100 mutations have been identified to date. The EPHB4 gene may also be involved. Capillary malformations with particular characteristics are described. High-flow vascular malformations are associated in 18.5% of cases, with 7.1% being intracerebral.

Conclusion: CM-AVM syndrome is a recent diagnostic entity. Diagnosis should be considered in the presence of multifocal capillary malformations. This diagnosis may lead to the detection of high-flow arteriovenous malformation and raises the question of specific management for these patients.

Keywords: Arteriovenous malformations; Capillary malformations; EPHB4; Malformations artérioveineuses; Malformations capillaires; RASA1.