Capillary malformations in a child caused by a novel HRAS mutation.
- Resource Type
- Article
- Authors
- van Gysel, Dirk; de Maeseneer, Hannelore; Legius, Eric; Brems, Hilde
- Source
- Pediatric Dermatology. Mar2024, Vol. 41 Issue 2, p289-291. 3p.
- Subject
- *HUMAN abnormalities
*VARICOSE veins
*CAPILLARIES
*GENETIC testing
*SKIN tests
*CHROMOSOME duplication
- Language
- ISSN
- 0736-8046
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. [ABSTRACT FROM AUTHOR]