PT Yu, HM Luk, IFM Lo

Abstract

Capillary haemangioma is a common dermatological condition, which present in approximately 1-2% of infant. While 30% appear at birth, almost all will be apparent by the age of 6 months. Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is an autosomal dominant disorder that characterised by the presence of multiple small capillary malformation, formation of high flow vascular anomalies like arteriovenous malformation (AVMs) and / or arteriovenous fistulas (AFVs) which typically develop in skin, muscle, brain, spine and rarely in bone. The prevalence is about 1:100,000.¹ Despite its rarity, it is still an important disease to recognise and differentiate from simple capillary haemangioma. As CM-AVM syndrome may lead to life threatening complications like congestive heart failure, rupture of AVM especially intracranial lesion which may leads to devastating neurological consequences. Here we present the first reported case of RASA1 related CM-AVM syndrome in Chinese, discuss on its clinical features and differential diagnosis, together with the indication for genetic referral.