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Updated: Sep 12, 2025

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
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.
None:
Congenital vascular malformations associated with segmental overgrowth and PIK3CA variants are well-documented and are classified within the PIK3CA-related overgrowth spectrum (PROS), yet PIK3CA-associated segmental undergrowth is a less understood entity. We present a case of a patient with a capillary venous malformation (CVM) and limb undergrowth associated with a pathogenic PIK3CA variant (p.Glu453Lys). An updated classification system should be considered to more broadly encompass variable phenotypic presentations of PIK3CA-related disorders, including segmental undergrowth. We propose novel terminology such as PIK3CA-related altered growth spectrum (PRAGS).
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