Table of Contents

HK J Paediatr (New Series)
Vol 24. No. 3, 2019

HK J Paediatr (New Series) 2019;24:151-154

Case Report

What Can It Be If Not a Simple Haemangioma?

PT Yu, HM Luk, IFM Lo


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.

毛細血管瘤是一種常見的皮膚病變,大約1-2%的嬰兒有這種情況。30%在出生時就有,幾乎所有病例均在6個月內表現出來。毛細管畸形─動靜脈畸形(CM-AVM)綜合徵是一種常染色體顯性遺傳病,其特徵是存在多種小毛細血管畸形,高流量血管畸形的形成,如動靜脈畸形(AVMs)和/或動靜脈瘺(AFVs),通常發生在皮膚、肌肉、大腦、脊椎,很少發生在骨骼中。患病率約為1:10萬。儘管其罕見,但它仍然是一個重要的疾病,以識別和區別於簡單的毛細血管瘤。由於CM-AVM綜合徵可能導致危及生命的併發症,如充血性心力衰竭,AVM破裂,尤其是顱內病變,可導致極嚴重的神經系統後遺症。本文報導中國首例 RASA1相關CM-AVM綜合徵病例,探討其臨床特點、鑒別診斷及遺傳轉診的適應症。

Keyword : Capillary haemangioma; Capillary malformation-arteriovenous malformation syndrome; CM-AVM; RASA1

關鍵詞:毛細血管瘤、毛細管畸形─動靜脈畸形綜合徵、CM-AVM、 RASA1


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