Department of Dermatology, Hospital Infanta Leonor, Madrid, Spain.
Department of Dermatology, Hospital Son Espases, Mallorca, Spain.
Clin Exp Dermatol. 2021 Mar;46(2):300-305. doi: 10.1111/ced.14428. Epub 2020 Oct 20.
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described, and none in Spain.
To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM-AVM.
We conducted an observational study of patients with CM-AVM syndrome diagnosed in 15 Spanish hospitals over 3 years. The main clinical, radiological, genetic findings and associated diseases were analysed.
In total, 64 patients were assessed. In 26.5% of cases, the diagnosis was incidental. In 75% of patients, there was one significantly larger macule, which we termed the 'herald patch'. FFVMs were detected in 34% of the patients, with 30% located on the skin, 7.8% in the brain and in 1.5% in the spine. There was a positive family history in 65% of the 64 patients. Genetic analysis was performed for RASA1 mutations in 57 patients, of whom 42 (73%) had a positive result. All 4 patients tested for EPHB4 mutations had a positive result. No tumour lesions were detected in the series, except for five infantile haemangiomas.
Our data on clinical lesions, associated FFVM, family history and genetics are similar to those previously published in the literature. An extensive data analysis failed to demonstrate any statistically significant association between the presence of an FFVM and any clinical, familial or genetic parameter that could predict its onset, although a link between the presence of a herald patch on the midline face and the presence of a brain FFVM was observed. We did not detect any genotype-phenotype correlation.
毛细血管畸形-动静脉畸形（CM-AVM）综合征是一种罕见的综合征，其特征性皮肤损伤与三分之一患者的快速血流血管畸形（FFVM）相关。虽已有少数病例系列报道，但西班牙尚无此类报道。
在一组大型 CM-AVM 患者中，确定皮肤科参数、FFVM 和相关特征的患病率。
我们对在 15 家西班牙医院诊断为 CM-AVM 综合征的患者进行了一项观察性研究。分析了主要的临床、放射学、遗传学发现和相关疾病。
共评估了 64 例患者。在 26.5%的病例中，诊断为偶发性。在 75%的患者中，存在一个明显较大的斑块，我们称之为“先驱斑”。在 34%的患者中检测到 FFVM，其中 30%位于皮肤，7.8%位于大脑，1.5%位于脊柱。在 64 例患者中，有 65%有阳性家族史。对 57 例患者进行了 RASA1 突变的基因分析，其中 42 例（73%）为阳性。对 4 例进行 EPHB4 突变检测的患者均为阳性。该系列中除了 5 例婴儿血管瘤外，未发现肿瘤病变。
我们关于临床病变、相关 FFVM、家族史和遗传学的数据与文献中先前发表的数据相似。尽管观察到中线面部先驱斑的存在与脑 FFVM 的存在之间存在关联，但广泛的数据分析未能证明 FFVM 的存在与任何可预测其发病的临床、家族或遗传参数之间存在任何统计学显著关联。我们未发现任何基因型-表型相关性。
