顔面耳介CM-AVMに対して塞栓-硬化療法に耳介形成手術を組み合わせた1例

Combined Embolo-Sclerotherapy and Otoplasty in a Patient with a Capillary Malformation-Arteriovenous Malformation

はじめに

　血管奇形の中にはさまざまな疾患群や症候群が含まれており，その中でCM-AVMは毛細血管奇形（capillary malformation：以下，CM）と動静脈奇形 （arteriovenous malformation：以下，AVM） の特徴を併せもつまれな疾患として，2003年に初めて報告された 1）。RASA-1遺伝子やEPHB4遺伝子の関連が指摘されており, 常染色体優性遺伝形式を示すが，家族歴のない突然変異による症例の報告もある 2）。今回著者らは，耳介を含む片側顔面の広範囲にCM-AVMを生じた患者に対して，塞栓-硬化療法と耳介形成手術とを併用することで良好な結果を得たので報告する。

　Capillary malformation-arteriovenous malformation (CM-AVM) is a rare autosomal-dominant disorder that is caused by a RASA1 or EPHB4 mutation and manifests as simultaneous CM and AVM. Few cases of patients with a CM-AVM have been reported, and debate remains regarding the etiology and treatment of this condition. A 31-year-old man had become aware of gradually progressing right ear enlargement and a pulsating area near the ear. He presented to our hospital for occasional bleeding from his right cheek after shaving his beard. Contrast-enhanced computed tomography revealed an extensive AVM spread over his right face. Considering the findings of a CM in the same area, we ultimately diagnosed CM-AVM. Embolo-sclerotherapy was planned in cooperation with interventional radiologists. The patient underwent two cycles of embolization with n-butyl 2-cyanoacrylate and sclerotherapy with ethanol in addition to an otoplasty, and the bleeding and the pulsing completely disappeared soon afterward. Although total resection of the large AVM was considered impossible, it was well controlled, with good clinical and cosmetic outcomes and patient satisfaction.