Visualizing Genetics: An Investigation of Dermoscopy as a Tool for Genetic Variant Prediction in Capillary Malformations
Our research identified distinct genotype-phenotype correlations for CMs by dermoscopy. Dermoscopy can narrow the differential diagnosis, guide genetic testing, and aid in the interpretation of variants of uncertain significance (VUS). This study demonstrates that dermoscopy holds promise in aiding genetic diagnosis and ultimately medical management.
Authors
- Denise M. Adams (ORCID: https://orcid.org/0000-0002-2892-5369)
- Marie‐Chantal Caussade (ORCID: https://orcid.org/0000-0002-3113-3063)
- Allison Britt (ORCID: https://orcid.org/0000-0001-6601-0453)
- Sarah E. Sheppard (ORCID: https://orcid.org/0000-0003-3480-8123)
- James R. Treat (ORCID: https://orcid.org/0000-0001-9945-8713)
- Aretha On
- Griffin Stockton Hogrogian (ORCID: https://orcid.org/0000-0003-2877-078X)
Institutions
- Children's Hospital of Philadelphia (US)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-10-08
- DOI
- https://doi.org/10.1111/pde.70036
- Primary Topic
- Vascular Malformations and Hemangiomas
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- U.S. Department of Health and Human Services
- National Institutes of Health