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Gorham-Stout disease: remission with sirolimus therapy
Gorham-Stout disease (GSD) is a rare, non-hereditary, bone disease characterised by progressive osteolysis as a result of uncontrolled proliferation of endothelial-lined vessels replacing normal bone. We present a baby-girl with the classic radiological features of GSD and compatible clinical and hi...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The British Institute of Radiology.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621585/ https://www.ncbi.nlm.nih.gov/pubmed/37928714 http://dx.doi.org/10.1259/bjrcr.20230032 |
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author | Yip, Stefanie W. Y. Griffith, James F Tong, Cina S. L. Lacambra, Maribel D Cheng, Frankie W. T. |
author_facet | Yip, Stefanie W. Y. Griffith, James F Tong, Cina S. L. Lacambra, Maribel D Cheng, Frankie W. T. |
author_sort | Yip, Stefanie W. Y. |
collection | PubMed |
description | Gorham-Stout disease (GSD) is a rare, non-hereditary, bone disease characterised by progressive osteolysis as a result of uncontrolled proliferation of endothelial-lined vessels replacing normal bone. We present a baby-girl with the classic radiological features of GSD and compatible clinical and histological findings, who developed progressive disease for over 2 years despite propranolol treatment. Propranolol treatment was stopped and sirolimus monotherapy started which resulted in near-complete resolution after 1 year, with no recurrence after discontinuation of treatment. This case not only illustrates the typical features of GSD on a variety of imaging modalities, but is also the first report showing stark contrast in response between propranolol and sirolimus treatment for GSD, highlighting how targeting lymphatic, rather than solely angiomatous, proliferation at the vascular endothelial growth factor-level may be a future direction. |
format | Online Article Text |
id | pubmed-10621585 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | The British Institute of Radiology. |
record_format | MEDLINE/PubMed |
spelling | pubmed-106215852023-11-03 Gorham-Stout disease: remission with sirolimus therapy Yip, Stefanie W. Y. Griffith, James F Tong, Cina S. L. Lacambra, Maribel D Cheng, Frankie W. T. BJR Case Rep Case Report Gorham-Stout disease (GSD) is a rare, non-hereditary, bone disease characterised by progressive osteolysis as a result of uncontrolled proliferation of endothelial-lined vessels replacing normal bone. We present a baby-girl with the classic radiological features of GSD and compatible clinical and histological findings, who developed progressive disease for over 2 years despite propranolol treatment. Propranolol treatment was stopped and sirolimus monotherapy started which resulted in near-complete resolution after 1 year, with no recurrence after discontinuation of treatment. This case not only illustrates the typical features of GSD on a variety of imaging modalities, but is also the first report showing stark contrast in response between propranolol and sirolimus treatment for GSD, highlighting how targeting lymphatic, rather than solely angiomatous, proliferation at the vascular endothelial growth factor-level may be a future direction. The British Institute of Radiology. 2023-09-12 /pmc/articles/PMC10621585/ /pubmed/37928714 http://dx.doi.org/10.1259/bjrcr.20230032 Text en © 2023 The Authors. Published by the British Institute of Radiology https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Case Report Yip, Stefanie W. Y. Griffith, James F Tong, Cina S. L. Lacambra, Maribel D Cheng, Frankie W. T. Gorham-Stout disease: remission with sirolimus therapy |
title | Gorham-Stout disease: remission with sirolimus therapy |
title_full | Gorham-Stout disease: remission with sirolimus therapy |
title_fullStr | Gorham-Stout disease: remission with sirolimus therapy |
title_full_unstemmed | Gorham-Stout disease: remission with sirolimus therapy |
title_short | Gorham-Stout disease: remission with sirolimus therapy |
title_sort | gorham-stout disease: remission with sirolimus therapy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621585/ https://www.ncbi.nlm.nih.gov/pubmed/37928714 http://dx.doi.org/10.1259/bjrcr.20230032 |
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