Concomitant Unusual Presentation of an Arteriovenous Malformation in a Mother and Child:

Plastic Surgery Case Studies

MariaGnarra¹ 

关键词: arterio–venus malformation;    limb;    PTEN mutations;   

DOI  :  10.1177/2513826X17728266

学科分类：医学（综合）

来源: Sage Journals

【 摘 要 】

Arterio-venous malformations (AVMs) are rare vascular anomalies due to the absent interposition of the capillary system between arteries and veins. Despite many AVMs being asymptomatic, pain, bleeding, functional impairment, and neurological compression can be observed, depending on the location of the lesion. Surgical removal of symptomatic lesions is the gold standard treatment. The vast majority of AVMs are sporadic, with only few familial cases reported. The pathogenics of the lesions are still elusive, although mutations in the PTEN and RASA1 gene have been identified. We report on an unusual presentation of an AVM occurring in similar anatomic locations and within concurring time spans, in a daughter and her mother. Both patients were negative for the known mutations.

【 授权许可】

CC BY