Exploring the genetic alterations of Gorham-Stout disease
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 challe...
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| Format: | Article |
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2025.1654497/full |
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| author | Olivia Pagliarosi Jessica Pepe Andrea Del Fattore Michela Rossi |
| author_facet | Olivia Pagliarosi Jessica Pepe Andrea Del Fattore Michela Rossi |
| author_sort | Olivia Pagliarosi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-bd67a5cea64e445ca12e470e5153c786 |
| institution | DOAJ |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-bd67a5cea64e445ca12e470e5153c7862025-08-20T03:07:12ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-08-011610.3389/fendo.2025.16544971654497Exploring the genetic alterations of Gorham-Stout diseaseOlivia Pagliarosi0Jessica Pepe1Andrea Del Fattore2Michela Rossi3Department of Clinical, Internal, Anesthesiology and Cardiovascular Sciences, Sapienza University, Rome, ItalyDepartment of Clinical, Internal, Anesthesiology and Cardiovascular Sciences, Sapienza University, Rome, ItalyBone Physiopathology Research Unit, Translational Pediatric and Clinical Genetic Research Division, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyBone Physiopathology Research Unit, Translational Pediatric and Clinical Genetic Research Division, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyThe “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.https://www.frontiersin.org/articles/10.3389/fendo.2025.1654497/fullGorham-Stout diseaserare diseasegenetic characterizationgenetic variantsmolecular pathways |
| spellingShingle | Olivia Pagliarosi Jessica Pepe Andrea Del Fattore Michela Rossi Exploring the genetic alterations of Gorham-Stout disease Frontiers in Endocrinology Gorham-Stout disease rare disease genetic characterization genetic variants molecular pathways |
| title | Exploring the genetic alterations of Gorham-Stout disease |
| title_full | Exploring the genetic alterations of Gorham-Stout disease |
| title_fullStr | Exploring the genetic alterations of Gorham-Stout disease |
| title_full_unstemmed | Exploring the genetic alterations of Gorham-Stout disease |
| title_short | Exploring the genetic alterations of Gorham-Stout disease |
| title_sort | exploring the genetic alterations of gorham stout disease |
| topic | Gorham-Stout disease rare disease genetic characterization genetic variants molecular pathways |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2025.1654497/full |
| work_keys_str_mv | AT oliviapagliarosi exploringthegeneticalterationsofgorhamstoutdisease AT jessicapepe exploringthegeneticalterationsofgorhamstoutdisease AT andreadelfattore exploringthegeneticalterationsofgorhamstoutdisease AT michelarossi exploringthegeneticalterationsofgorhamstoutdisease |