Abstract
Background
Most patients with phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA)-related overgrowth spectrum become symptomatic
early in life and need treatment before puberty. Recently, the specific inhibition
of PIK3CA pathways has been proposed as a therapeutic option for these patients improving
their surgical options and quality of life. Alpelisib, a specific alpha fraction inhibitor,
has shown promising results.
Case
A 17-year-old girl presented with severe involvement of her external genitalia with
a combined vascular malformation in the context of congenital, lipomatous, overgrowth,
vascular malformations, epidermal nevi and spinal/skeletal anomalies and/or scoliosis
syndrome, needing frequent blood transfusions for anemia due to vaginal bleeding and
use of a crutch for walking. After failure of treatment with rapamycin, compassionate
treatment with alpelisib was started with excellent response.
Summary and Conclusion
PIK3CA inhibitors might become a new option of treatment for PIK3CA-related overgrowth
spectrum patients.
Key Words
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Article info
Publication history
Published online: July 19, 2019
Footnotes
The authors indicate no conflicts of interest.
Identification
Copyright
© 2019 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc.
