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  • Title: Capillary malformations in a child caused by a novel HRAS mutation.
    Author: van Gysel D, de Maeseneer H, Legius E, Brems H.
    Journal: Pediatr Dermatol; 2024; 41(2):289-291. PubMed ID: 38018302.
    Abstract:
    A 6-year-old boy with multiple capillary malformations of the port-wine birthmark (PWB) type on the right leg since birth presented with a varicose vein and segmental overgrowth of the affected leg. Genetic testing on affected skin confirmed the presence of a somatic novel pathogenic HRAS 30 bp in-frame duplication/insertion in the switch II domain. This case illustrates the phenotypic overlap of different genotypes and shows that somatic HRAS pathogenic variants, especially in-frame duplications/insertions, must be added to the list of the underlying causes in capillary malformations.
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