Osseous vascular anomalies can be characterized as vascular tumors or malformations. Classification is vital for prognosis and treatment. Much remains unknown about conditions such as Gorham-Stout disease. Treatments target the proposed genetic pathways such as PI3KCA/AKT/mTOR pathway.
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Successful Management of Chronic Chylothorax Secondary to Gorham-Stout Disease.
Ann Thorac Surg Short Rep
December 2024
Thoracic Surgery Department, Nottingham University Hospitals NHS Trust, UK.
Gorham-Scout disease (GSD) is a rare skeletal disorder of unknown etiology characterized by progressive osteolysis and excessive lymphovascular proliferation. Chylothorax is a life-threatening complication. A teenager presented with a left pleural effusion on a background of chronic flank collection secondary to lymphovascular malformation.
View Article and Find Full Text PDFSurgical treatment of Gorham-Stout disease combined with scoliosis: a case report and literature review.
BMC Musculoskelet Disord
December 2024
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People's Republic of China.
Background: Gorham-Stout disease (GSD) is a rare disease characterized by osteolysis and lymphatic malformations. GSD involving the spine is exceptionally rare and lacks a standard cure. The aim of this article was to report a case of GSD with scoliosis treated via corrective surgery and medication.
View Article and Find Full Text PDFTibiopelvic Rotational Arthroplasty for Pediatric Gorham-Stout Disease: A Case Report and Surgical Technique.
JBJS Case Connect
October 2024
Department of Orthopaedics, Texas Scottish Rite Hospital for Children, Dallas, Texas.
Case: This is a case of a 6-year-old patient diagnosed with Gorham-Stout disease (GSD), a rare lymphangiogenic skeletal disorder, localized to the left femur. Initial nonoperative treatment with pharmaceuticals and bracing was unsuccessful. We describe a definitive operative treatment with radical femoral resection and a modified rotationplasty technique through a tibiopelvic rotational hip arthroplasty.
View Article and Find Full Text PDFInhibition of EGFR Pathway Suppresses M1 Macrophage Polarization and Osteoclastogenesis, Mitigating Titanium Particle-Induced Bone Resorption.
J Inflamm Res
November 2024
Department of orthopedics, the Affiliated Changzhou Second People's Hospital of Nanjing Medical University, Changzhou, People's Republic of China.
Purpose: The polarization of macrophages towards the pro-inflammatory M1 phenotype and osteoclast overactivation play a significant role in the pathogenesis of aseptic loosening of orthopedic implants. This study sought to examine the expression and activation of macrophages and osteoclasts in implant biopsies with respect to epidermal growth factor receptor (EGFR) signaling and to assess the potential of EGFR inhibition in mitigating titanium particle-induced bone resorption in a cranial resorption murine model.
Methods: Bone marrow-derived macrophages (BMDMs) were stimulated with Tumor Necrosis Factor-alpha (TNF-α) and Interferon-gamma (IFN-γ) initially.
Effective Use of ALK Inhibitors in EML4::ALK-Positive Lymphatic Malformations.
Pediatr Blood Cancer
February 2025
Division of Pediatric Hematology/Oncology, Phoenix Children's Hospital, Phoenix, Arizona, USA.
Genetically targeted medications are emerging as important therapies for lymphatic malformations (LMs) unresponsive to sirolimus. We describe two patients with EML4::ALK-positive LMs, one with Gorham Stout disease and one with a large genitourinary (GU) LM, who were successfully treated with ALK inhibitors. This report adds ALK inhibitors to the growing toolbox of molecularly targeted therapies for LMs.
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