Familial cerebral cavernous malformations due to the common Hispanic mutation (FCCM1-CHM) is an endemic condition among the Hispanic population of the Southwestern United States associated with significant morbidity and mortality. Cutaneous vascular malformations (CVMs) can be found in individuals with FCCM1-CHM, but their morphology, prevalence, and association with cerebral cavernous malformations (CCMs) has not been well characterized. A cross-sectional study of 140 individuals with confirmed FCCM1-CHM was performed with statistical analyses of CVM, CCM, and patient characteristics. We then compared these findings to other cohorts with Familial cerebral cavernous malformations (FCCM) due to other mutations. We observed a higher overall prevalence and a different predominant morphological subtype of CVM compared to previous FCCM cohorts. While the number of CVMs was not a reliable indicator of the number of CCMs present, each person with one or more CVMs had evidence of central nervous system (CNS) disease. Awareness of the morphology of these cutaneous lesions can aid in the diagnosis of individuals with FCCM-CHM in Hispanic patients or those with family history of CCM.

中文翻译：

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由于常见的西班牙裔突变而导致的家族性脑海绵状畸形综合征的皮肤病学发现。

常见的西班牙裔突变（FCCM1-CHM）导致的家族性脑海绵状畸形是美国西南部西班牙裔人口中的一种流行病，与高发病率和死亡率相关。在患有FCCM1-CHM的个体中可以发现皮肤血管畸形（CVM），但是它们的形态，患病率以及与脑海绵状畸形（CCM）的关联尚未得到很好的表征。通过对CVM，CCM和患者特征的统计分析，对140名确诊为FCCM1-CHM的个体进行了横断面研究。然后，我们将这些发现与其他因家族性突变而患有家族性脑海绵状畸形（FCCM）的队列进行了比较。我们观察到与以前的FCCM队列相比，CVM的总体患病率较高，并且具有不同的主要形态亚型。虽然CVM的数量不是存在CCM数量的可靠指标，但是每个拥有一个或多个CVM的人都有中枢神经系统（CNS）疾病的证据。了解这些皮肤病变的形态有助于诊断西班牙裔患者或有CCM家族史的FCCM-CHM患者。