Capillary malformations in a child caused by a novel HRAS mutation
Dirk van Gysel1,2, Hannelore de Maeseneer1, Eric Legius3,4
1Department of Pediatrics, O.L. Vrouw Hospital Aalst, Aalst, Belgium.
Pediatric Dermatology
|November 29, 2023
Summary
A novel HRAS gene mutation was found in a child with port-wine birthmarks and leg overgrowth. This discovery expands the known genetic causes of capillary malformations.
Area of Science:
- Genetics
- Dermatology
- Vascular Biology
Background:
- Capillary malformations, such as port-wine birthmarks (PWB), are common vascular anomalies.
- These malformations can be associated with other clinical features, including overgrowth and venous abnormalities.
- The genetic underpinnings of many capillary malformations remain incompletely understood.
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