Τετάρτη 19 Φεβρουαρίου 2020

A PIK3CA mutation in an acquired capillary malformation

A PIK3CA mutation in an acquired capillary malformation:

Abstract

Acquired capillary malformations are rare vascular anomalies composed of dilated capillaries in the skin. We present a pediatric case of an acquired capillary malformation as a novel presentation of the PIK3CA‐related overgrowth syndromes. Using next‐generation sequencing, we identified a PIK3CA p.Val344Met mutation within the acquired capillary malformation with possible prognostic and therapeutic significance.

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