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  • Title: Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.
    Author: Sánchez-Espino LF, Ivars M, Prat Torres C, Lavarino CE, Olaciregui NG, Zurriaga CR, Passini VPC, Serrano MB, Baselga E.
    Journal: Pediatr Dermatol; 2024; 41(5):861-865. PubMed ID: 38556785.
    Abstract:
    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.
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