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Updated: Jan 16, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
[Gorham-Stout disease : a rare entity]
Noémi Brügger1, Marcella Pucci2, Andrea Bartoli3
1Service d'ORL et de chirurgie cervicofaciale, Hôpitaux universitaires de Genève, 1211 Genève 14.
Abstract:
Gorham-Stout disease (GSD) is a rare disorder of unknown etiology, characterized by progressive osteolysis due to abnormal proliferation of lymphatic and vascular tissue within the bone. It can affect the entire skeleton. Symptoms may include bone pain, swelling, and fractures. Diagnosis relies mainly on imaging and histology. Treatment may include bisphosphonates (osteoclast inhibitors), sirolimus (mTOR (mechanistic Target Of Rapamycin) inhibitor), radiotherapy, and surgery. The prognosis is uncertain and depending on the location and severity of the lesions, the condition may be life-threatening. This article reviews the current knowledge about this disease and illustrates it with a clinical case.
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