Pediatric Dermatology · 2020 · 13 citations · 7 references
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder caused by heterozygous mutations in RASA1 and EPHB4. Capillary stains in CM-AVM are compatible with Schöbinger's phase I AVMs. Vascular laser has been classically contraindicated for the treatment of AVMs, as there is a fear of accelerating their progression. In this study, we have treated capillary stains in five CM-AVM patients with pulsed dye laser, with improvement and without worsening or recurrence of the lesions after 1 year of clinical and ultrasound follow-up.
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Iiro Eerola, Laurence M. Boon, John B. Mulliken et al. · The American Journal of Human Genetics · 2003 · 742 citations · Full text
Capillary Malformation–arteriovenous Malformation, Rasa1 Mutations, Genetic Disorder +6