AUTHOR=Pagliarosi Olivia , Pepe Jessica , Del Fattore Andrea , Rossi Michela 

TITLE=Exploring the genetic alterations of Gorham-Stout disease

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2025.1654497

DOI=10.3389/fendo.2025.1654497

ISSN=1664-2392

ABSTRACT=The “vanishing bone disease” or Gorham-Stout disease (GSD) is a very rare disorder characterized by massive lymphatic and angiomatous proliferation accompanied by progressive osteolysis, without the deposition of new bone matrix. Because of its rare and complex clinical features, diagnosis is challenging and its etiopathogenesis is not completely known; the genetic basis of GSD has been hypothesized and different mutations have been reported in patients. Our review aims to describe all these genetic alterations found in GSD patients and their association with clinical features. The identification of a specific molecular pathway or genetic alteration in GSD could help in the diagnosis and possibly the treatment of this rare sporadic disease.