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.

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

Resta N.
Writing – Original Draft Preparation
;
Bagnulo R.
Membro del Collaboration Group
;
2019

Abstract

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11586/273317
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