Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.
Pediatr Dermatol
; 2024 Mar 31.
Article
em En
| MEDLINE
| ID: mdl-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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MEDLINE
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Ano de publicação:
2024
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Article