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

doi:10.1111/cge.13550

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

University of Bari

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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 language	English
Pages (from-to)	1-10
Number of pages	10
Journal	Clinical Genetics
Volume	2019
DOIs	https://doi.org/10.1111/cge.13550
Publication status	Published - 2019

Keywords

Sirolimus

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10.1111/cge.13550

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

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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author = "Chiara Leoni and Roberta Onesimo and Nicoletta Resta and Patti, {Maria Letizia} and {De Santis}, Rita and Rosanna Bagnulo and Luca Russo and Riccardo Manfredi and Maurizio Genuardi and Giuseppe Zampino",

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TY - JOUR

T1 - Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

AU - Leoni, Chiara

AU - Onesimo, Roberta

AU - Resta, Nicoletta

AU - Patti, Maria Letizia

AU - De Santis, Rita

AU - Bagnulo, Rosanna

AU - Russo, Luca

AU - Manfredi, Riccardo

AU - Genuardi, Maurizio

AU - Zampino, Giuseppe

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - Sirolimus

UR - http://hdl.handle.net/10807/135678

U2 - 10.1111/cge.13550

DO - 10.1111/cge.13550

M3 - Article

SN - 0009-9163

VL - 2019

SP - 1

EP - 10

JO - Clinical Genetics

JF - Clinical Genetics

ER -

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

Abstract

Keywords

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