Capillary malformation-arteriovenous malformations (CM-AVMs) caused by a RASA-1 or EPHB4 mutation are characterized as hereditary sporadic or multifocal capillary malformations (CMs), associated with potential fast-flow vascular anomalies underlying erythema lesions. Because of the similar phenotype, CM-AVMs should be considered in the differential diagnosis of isolated CMs as well as other disorders with an erythema phenotype, such as hereditary hemorrhagic telangiectasia (HHT). Herein, we report a male patient with facial erythema. Red lesions were located in the V1 region of his left face, the V2 and V3 regions on his right side, and the nasal back. The patient was initially thought to have PWSs because of the unilateral and segmental distribution of his red facial lesions. In contrast to a previous diagnosis, we diagnosed the child with capillary malformation-arteriovenous malformation type 2 (CM-AVM2) based on a family history of erythema, the results of physical examination and ultrasound raising potential fast-flow lesions, and a genetic study revealing a germline EPHB4 mutation. This study emphasizes the importance of differential diagnosis for PWS and CM-AVM. A single clinical diagnosis can be limited, and molecular diagnosis is recommended to provide more information for the evaluation of the potential risk of fast-flow lesions underlying erythema lesions if necessary.

中文翻译：

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面部红斑的单侧和节段性分布：它是真正的葡萄酒色斑吗？

由 RASA-1 或 EPHB4 突变引起的毛细血管畸形-动静脉畸形 (CM-AVM) 的特征是遗传性散发性或多灶性毛细血管畸形 (CM)，与潜在的红斑病变潜在的快速流动血管异常相关。由于具有相似的表型，CM-AVM 应在孤立性 CM 以及其他具有红斑表型的疾病（如遗传性出血性毛细血管扩张症 (HHT)）的鉴别诊断中考虑。在此，我们报告了一名面部红斑男性患者。红色病变位于左脸V1区、右侧V2和V3区以及鼻后部。该患者最初被认为患有 PWS，因为他的红色面部病变呈单侧和节段性分布。与之前的诊断相反，我们根据红斑家族史、体格检查和超声检查结果显示潜在的快速流动病变，以及一项揭示生殖系 EPHB4 突变的基因研究，诊断出该儿童患有毛细血管畸形 - 动静脉畸形 2 型 (CM-AVM2)。本研究强调了鉴别诊断对 PWS 和 CM-AVM 的重要性。单一的临床诊断可能受到限制，如有必要，建议分子诊断为评估红斑病变潜在的快速流动病变的潜在风险提供更多信息。本研究强调了鉴别诊断对 PWS 和 CM-AVM 的重要性。单一的临床诊断可能受到限制，如有必要，建议分子诊断为评估红斑病变潜在的快速流动病变的潜在风险提供更多信息。本研究强调了鉴别诊断对 PWS 和 CM-AVM 的重要性。单一的临床诊断可能受到限制，如有必要，建议分子诊断为评估红斑病变潜在的快速流动病变的潜在风险提供更多信息。