Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.

Autor:	Sánchez-Espino LF; 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., Ivars M; 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., Prat Torres C; Dermatology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain., Lavarino CE; Molecular Oncology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain.; Oncology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain., Olaciregui NG; Molecular Oncology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain.; Oncology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain., Zurriaga CR; Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain.; Pathology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain., Passini VPC; Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain.; Oncology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain., Serrano MB; Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain.; Surgery Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Cataluña, Spain., Baselga E; 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.
Jazyk:	angličtina
Zdroj:	Pediatric dermatology [Pediatr Dermatol] 2024 Sep-Oct; Vol. 41 (5), pp. 861-865. Date of Electronic Publication: 2024 Mar 31.
DOI:	10.1111/pde.15598
Abstrakt:	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. (© 2024 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.)
Databáze:	MEDLINE
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