A tale of two <i>KRAS</i> variants
We report two patients with identical KRAS p.G12D variants but strikingly different vascular phenotypes: a high-flow arteriovenous malformation and an isolated capillary-predominant lesion. These cases expand the phenotypic spectrum of KRAS-associated vascular malformations and highlight the value in genetic testing, particularly in atypical presentations.
Authors
- Laura Scardamaglia (ORCID: https://orcid.org/0000-0001-6160-8886)
- Ingrid Winship (ORCID: https://orcid.org/0000-0001-8535-6003)
- Jessica McClatchy
- Will Swansson
Institutions
- The Royal Melbourne Hospital (AU)
- Royal Children's Hospital (AU)
- The University of Melbourne (AU)
- Western Health (AU)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-01-07
- DOI
- https://doi.org/10.1093/bjd/ljag004
- Primary Topic
- Vascular Malformations and Hemangiomas
- Type
- article
- Field-Weighted Citation Impact
- 0.00