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A PIK3CA mutation in an acquired capillary malformation
Jaclyn Rosenthal1, Cathryn Sibbald2, Melinda Jen3
1Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Pediatric Dermatology
|December 13, 2019
Summary
Acquired capillary malformations, rare skin vascular anomalies, can signal PIK3CA-related overgrowth syndromes in children. Genetic sequencing revealed a PIK3CA mutation in a case, suggesting new diagnostic and treatment avenues.
Area of Science:
- Vascular biology
- Pediatric genetics
- Dermatology
Background:
- Acquired capillary malformations are rare vascular anomalies characterized by dilated capillaries in the skin.
- PIK3CA-related overgrowth syndromes (PROS) encompass a spectrum of conditions caused by mutations in the PIK3CA gene.
Observation:
- This report details a pediatric case presenting with an acquired capillary malformation.
- The malformation was identified as a novel manifestation of PROS.
Findings:
- Next-generation sequencing was employed to analyze the genetic basis of the malformation.
- A specific PIK3CA p.Val344Met mutation was detected within the acquired capillary malformation tissue.
Implications:
- The identification of a PIK3CA mutation offers potential prognostic insights.
- This finding may guide future therapeutic strategies for similar pediatric vascular anomalies.
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