Related Experiment Video
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06:51
A Patient-Derived Xenograft Model for Venous Malformation
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Capillary Venous Malformation With Undergrowth and Activating PIK3CA Variant: An Underrecognized Phenotype
Alexa G Ries1, Kelly K Barry1, Adam Thiessen2
1Department of Dermatology, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.
Pediatric Dermatology
|August 9, 2025
Summary
PIK3CA-related disorders can cause overgrowth, but undergrowth is less understood. This case highlights a capillary venous malformation with limb undergrowth linked to a PIK3CA variant, suggesting a broader classification is needed.
Area of Science:
- Genetics
- Vascular Biology
- Developmental Biology
Background:
- PIK3CA-related overgrowth spectrum (PROS) encompasses disorders with segmental overgrowth and PIK3CA variants.
- PIK3CA-associated segmental undergrowth remains poorly characterized.
- Understanding PIK3CA-related disorders requires examining diverse phenotypic presentations.
Observation:
- A patient presented with capillary venous malformation (CVM) and limb undergrowth.
- Genetic analysis revealed a pathogenic PIK3CA variant (p.Glu453Lys) in the affected individual.
- This case challenges the current understanding of PIK3CA-related conditions.
Findings:
- The identified PIK3CA variant is associated with segmental undergrowth, contrasting with typical PROS manifestations.
- This case underscores the phenotypic variability within PIK3CA-related disorders.
- The findings necessitate a re-evaluation of existing classification systems.
Implications:
- An updated classification system is proposed to include PIK3CA-related altered growth spectrum (PRAGS), encompassing both overgrowth and undergrowth.
- This broader classification will improve diagnostic accuracy and patient management.
- Further research into PIK3CA-related disorders is crucial for understanding the full spectrum of these conditions.
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