# Segmental Congenital Vascular Anomaly With Atrophy, Ulceration and Scarring With Complications in Pregnancy

## TL;DR

A woman with a vascular anomaly in her neck experienced complications during pregnancy, but her condition improved with sirolimus therapy.

## Contribution

The study identifies mutations in GNA11 and PIK3CA in a congenital vascular anomaly and demonstrates effective treatment with sirolimus.

## Key findings

- A missense mutation in GNA11 (Glu209) was found in the patient's affected tissue.
- Sirolimus therapy healed ulceration and resolved Horner's syndrome.
- The patient's condition worsened during pregnancy but improved post-treatment.

## Abstract

A 33‐year‐old woman with a segmental non‐involuting congenital vascular anomaly of the left neck developed pain and ulceration in pregnancy and left‐sided Horner's syndrome after delivery. Mutational analysis of affected tissue showed a missense mutation in GNA11 (Glu209) and a second mutation in PIK3CA. Sirolimus therapy resulted in healing of the ulceration and resolution of the Horner's syndrome.