Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Chiara LeoniRoberta OnesimoNicoletta RestaMaria L PattiRita De SantisRosanna BagnuloLuca RussoRiccardo ManfrediMaurizio GenuardiGiuseppe Zampino

Published in: Clinical genetics (2019)

PIK3CA-related overgrowth spectrum (PROS) are overgrowth diseases involving mesenchymal tissues caused by postzygotic variants in the PIK3CA gene. Fibro-Adipose hyperplasia or Overgrowth (FAO) belongs to PROS. We reported the beneficial effect of oral low-dose sirolimus therapy in a child affected by progressive FAO in term of stabilization of the disease, good tolerability, and easy management.

Keyphrases

low dose
copy number
mental health
genome wide
stem cells
multiple sclerosis
bone marrow
gene expression
adipose tissue
preterm infants
type diabetes
high dose
protein kinase
open label
skeletal muscle