REVIEW article
Front. Endocrinol.
Sec. Bone Research
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1654497
This article is part of the Research TopicGenetic and Molecular Determinants in Bone Health and Diseases - Volume IIView all 8 articles
Exploring the genetic alterations of Gorham-Stout Disease
Provisionally accepted
- 1Department of Clinical, Internal, Anesthesiology and Cardiovascular Sciences, Sapienza University, 00161, Rome, Italy
- 2Bone Physiopathology Research Unit, Translational Pediatric and Clinical Genetic Research Division, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy
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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.
Keywords: Gorham-Stout disease, rare disease, Genetic characterization, genetic variants, molecular pathways
Received: 26 Jun 2025; Accepted: 01 Aug 2025.
Copyright: © 2025 Pagliarosi, Pepe, Del Fattore and Rossi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Andrea Del Fattore, Bone Physiopathology Research Unit, Translational Pediatric and Clinical Genetic Research Division, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy
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