Sánchez-Espino Luis Fernando, Ivars Marta, Prat Torres Carolina, Lavarino Cinzia E, Olaciregui Nagore Gené, Zurriaga Carlota Rovira, Passini Verónica P Celis, Serrano Miguel Bejarano, Baselga Eulàlia
Dermatology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain.
Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain.
Pediatr Dermatol. 2024 Sep-Oct;41(5):861-865. doi: 10.1111/pde.15598. Epub 2024 Mar 31.
We report two cases with localized vascular malformations clinically resembling the "dominant lesion" seen in capillary malformation-arteriovenous malformation (CM-AVM) syndrome, however, lacking germline RASA1 variants but presenting double somatic RASA1 variants in affected tissue. Both patients presented with localized and superficial high-flow vascular malformations were treated with surgery and laser therapy and showed partial resolution. The study underscores the rarity of somatic RASA1 variants, contributes to understanding the "second-hit" pathophysiology in vascular lesions, and emphasizes the significance of clinical distinctions and genotyping for accurate diagnoses, offering implications for diagnosis, prognosis, and genetic counseling.
我们报告了两例局限性血管畸形病例，其临床表现类似于毛细血管畸形 - 动静脉畸形（CM-AVM）综合征中所见的“主要病变”，然而，缺乏种系RASA1变异，但在受影响组织中出现双体细胞RASA1变异。两名患者均表现为局限性浅表高流量血管畸形，接受了手术和激光治疗，症状部分缓解。该研究强调了体细胞RASA1变异的罕见性，有助于理解血管病变中的“二次打击”病理生理学，并强调了临床鉴别和基因分型对准确诊断的重要性，为诊断、预后和遗传咨询提供了启示。
