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

Chiara Leoni, Roberta Onesimo, Nicoletta Resta, Maria Letizia Patti, Rita De Santis, Rosanna Bagnulo, Luca Russo, Riccardo Manfredi, Maurizio Genuardi, Giuseppe Zampino

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.
Original languageEnglish
Pages (from-to)1-10
Number of pages10
JournalClinical Genetics
Volume2019
DOIs
Publication statusPublished - 2019

Keywords

  • Sirolimus

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