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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

1 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)1-10
Numero di pagine10
RivistaClinical Genetics
Volume2019
DOI
Stato di pubblicazionePubblicato - 2019

Keywords

  • Sirolimus

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