Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
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DOI：
10.1002/ajmg.a.61519
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发表时间：
2020-05
期刊：
影响因子：
--
通讯作者：
Morrison LA
中科院分区：
文献类型：
--
作者：
Manole AK;Forrester VJ;Zlotoff BJ;Hart BL;Morrison LA
家族性脑海绵状血管瘤是由西班牙裔基因突变（FCCM1-CHM）引起的，是美国西南部西班牙裔人群的一种地方性疾病，具有很高的发病率和死亡率。皮肤血管畸形（cvm）可以在FCCM1-CHM患者中发现，但其形态、患病率及其与脑海绵状血管瘤（CCMs）的关系尚未得到很好的表征。对140例确诊为FCCM1-CHM的患者进行横断面研究，对CVM、CCM和患者特征进行统计分析。然后，我们将这些发现与其他由其他突变引起的家族性脑海绵状畸形（FCCM）的队列进行比较。我们观察到与以前的FCCM队列相比，CVM的总体患病率更高，主要形态亚型不同。虽然cvm的数量不是存在CCMs数量的可靠指标，但每个有一个或多个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西班牙裔患者或有CCM家族史的FCCM-CHM个体的诊断。
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.
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