Segmental Congenital Vascular Anomaly With Atrophy, Ulceration and Scarring With Complications in Pregnancy
Anne R. Halbert, AmyLeigh Hall, Cathryn Poulton
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.
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.
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Taxonomy
TopicsVascular Malformations and Hemangiomas · Vascular Tumors and Angiosarcomas · Tumors and Oncological Cases