Capillary malformations in a child caused by a novel HRAS mutation

Dirk van Gysel, Hannelore de Maeseneer, Eric Legius, Hilde Brems

Onderzoeksoutput: Articlepeer review


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.

Originele taal-2English
Pagina's (van-tot)289-291
Aantal pagina's3
TijdschriftPediatric Dermatology
Nummer van het tijdschrift2
StatusPublished - 1 mrt 2024

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