Gorham-Stout disease in the rib and spine treated with zoledronic acid, calcium, and vitamin D after vertebral biopsy: a case description with literature analysis.
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SUBMITTER: Song Y
PROVIDER: S-EPMC10167449 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature
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Gorham-Stout disease in the rib and spine treated with zoledronic acid, calcium, and vitamin D after vertebral biopsy: a case description with literature analysis.
Song Yu Y Zhang Hengyan H Li Mei M Zhang Jia J
Quantitative imaging in medicine and surgery 20230214 5
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Project description: Not available
| S-EPMC10585519 | biostudies-literature
Project description:Gorham-Stout disease is an extremely rare disease characterized by progressive massive osteolysis with different clinical manifestations. The pathology is characterized by vascular proliferation, leading to destruction and resorption of the bone matrix, but the exact etiology is unknown. It can occur in any part of the body, with few reports of cases involving the maxillofacial region. Herein, the authors report a case of Gorham-Stout disease of the mandible, which started by affecting the alveolar bone and progressed to the mandibular marginal branches and even to the implanted vascularized free fibula.
| S-EPMC10880927 | biostudies-literature
Project description:BackgroundGorham-Stout disease is a rare condition characterized by unifocal and massive type IV osteolysis (variant of idiopathic nonhereditary osteolytic disease) with a slow progression, which is self-limiting for some years. It is characterized by recurrent vascular tumors with disruption of the anatomical architecture and intraosseous proliferation of vascular channels that leads to the destruction and resorption of the bone matrix. The aim of this study is to present the clinical features of this disease, as well as the importance of prompt diagnosis and treatment, with a review of the reported cases.Case reportsWe describe two cases of Gorham-Stout disease between 2013 and 2017 with surgical interventions, follow-up and results. Case one involves an 11-year-old male with involvement of the left iliac bone, with adequate evolution after a surgical procedure with a lyophilized cadaveric tricortical bone allograft. Case two involves a 6-year-old male with cervical spine C1-C3 repercussion; in the protocol for surgical treatment, he presented with signs of spinal cord compression and died.ConclusionDiagnosis of Gorham-Stout disease is made by exclusion, and its clinical presentation varies widely, from spontaneous remission to a fatal outcome.
| S-EPMC6591827 | biostudies-literature
Project description:Gorham-Stout disease (GSD) is a very rare syndrome displaying excessive bone erosion and vascular lesion. Due to the rarity of the disease and to the limited studies, its etiopathogenesis is not entirely known. The involvement of immune system in the progressive osteolysis was recently suggested. Indeed, extensive reciprocal interactions between the immune and skeletal systems have been demonstrated. This study aimed to evaluate alterations of immune cells in GSD. An increase of CD8+ cells and reduction of CD4+ and CD4+CD25+CD127low cells was revealed in patients. Interestingly, patients' regulatory T cells maintain the ability to respond to extracellular stimuli and to regulate osteoclastogenesis; GSD cells proliferate under aCD3/CD28 signal reaching similar levels to those observed in control culture and exert their immunomodulatory activity on effector T cells. GSD Treg cells preserved their inhibitory effects on the osteoclastogenesis. These results suggest that stimulation of Treg cells could open the way for the identification and testing of new therapeutic approaches for patients affected by GSD.
| S-EPMC8430039 | biostudies-literature
Project description:Gorham-Stout disease (GSD) is a sporadically occurring lymphatic disorder. Patients with GSD develop ectopic lymphatics in bone, gradually lose bone, and can have life-threatening complications, such as chylothorax. The etiology of GSD is poorly understood, and current treatments for this disease are inadequate for most patients. To explore the pathogenesis of GSD, we performed targeted high-throughput sequencing with samples from a patient with GSD and identified an activating somatic mutation in KRAS (p.G12V). To characterize the effect of hyperactive KRAS signaling on lymphatic development, we expressed an active form of KRAS (p.G12D) in murine lymphatics (iLECKras mice). We found that iLECKras mice developed lymphatics in bone, which is a hallmark of GSD. We also found that lymphatic valve development and maintenance was altered in iLECKras mice. Because most iLECKras mice developed chylothorax and died before they had significant bone disease, we analyzed the effect of trametinib (an FDA-approved MEK1/2 inhibitor) on lymphatic valve regression in iLECKras mice. Notably, we found that trametinib suppressed this phenotype in iLECKras mice. Together, our results demonstrate that somatic activating mutations in KRAS can be associated with GSD and reveal that hyperactive KRAS signaling stimulates the formation of lymphatics in bone and impairs the development of lymphatic valves. These findings provide insight into the pathogenesis of GSD and suggest that trametinib could be an effective treatment for GSD.
| S-EPMC8410066 | biostudies-literature
Project description::Background: Etiological understanding is the corner stone in the management of skeletal deformities. Methods: Multi-centre study of patients with deformities in connection with diverse etiological backgrounds. We aimed to study four patients (one boy and three girls) with variable axial and appendicular deformities in connection with a vanishing bone disorder. Results: Axial deformities such as scoliosis, kyphoscoliosis, compressed fused vertebrae, appendicular fractures, dislocations, and vicious disorganization deformities of the joints were in connection with the vanishing bone disorder, namely Gorham-Stout syndrome. Conclusions: It is mandatory to establish proper clinical and radiological phenotypic characterization in children and adults presented with unusual skeletal deformities. Identifying the reason behind these deformities is the key factor to draw a comprehensive management plan.
| S-EPMC6631250 | biostudies-literature
Project description:BackgroundGorham-Stout disease (GSD) is a rare complex lymphatic malformation. Since its initial description in 1838, only approximately 400 patients have been documented. There is currently no consensus on the diagnostic criteria or treatment options for GSD. The objective of this study was to review the clinical characteristics of patients with GSD and determine the current diagnostic and treatment models.MethodsA comprehensive search of the PubMed, Web of Science, Embase, and Cochrane Library databases was conducted to identify all relevant literature on GSD published over the decade from 2013 to 2023. The clinical information extracted from these publications was analyzed.ResultsA total of 206 patients with GSD were included in the study, comprising 119 males, 81 females and 6 patients with unknown sex. The age of onset of patients was widely distributed, ranging from 0 to 77 years old. However, the majority of cases occurred in childhood (50.7%). Fifteen patients (10.3%) exhibited an onset age of less than 1 year. The average time from the onset of symptoms to diagnosis was 3.5 years. The number of patients with osteolysis in the axial bone was greater than that in the appendiceal bone (P < 0.05), and the number of patients with multiple osteolytic lesions was greater than that with single osteolytic lesions (77.2% vs. 22.8%). In general, GSD was more likely to occur in the spine (46.1%), ribs (28.6%), hip (23.3%), femur (18.4%), mandible (15.5%) and humerus (15.0%). Pain was the most common symptom, with 68.4% of patients reporting pain in the lesion area. Surgery (66.9%) and bisphosphonates (56.9%) are still the mainstream treatment methods, with a total of 33 (18.2%) patients receiving sirolimus. Pleural effusion was identified as a risk factor for patient mortality (P < 0.05).ConclusionsGSD is most commonly observed in children, with a slight male predisposition. It commonly manifests as multiple osteolysis of the axial bone, with pain being the most common symptom. The presence of pleural effusion indicates a serious condition that requires close monitoring to prevent mortality. Despite the advent of novel therapeutic modalities, the management of GSD remains an area in need of further investigation.
| S-EPMC11921740 | biostudies-literature
Project description:BackgroundGeneralized lymphatic anomaly (GLA) and Gorham-Stout disease (GSD) are rare complicated lymphatic malformations that occur in multiple body sites and are associated with significant morbidity and mortality. Treatment options have been limited, and conventional medical therapies have been generally ineffective. Emerging data suggest a role for sirolimus as a treatment option for complex lymphatic anomalies.ProcedureDisease response was evaluated by radiologic imaging, quality of life (QOL), and clinical status assessments in children and young adults with GLA and GSD from a multicenter systematic retrospective review of patients treated with oral sirolimus and the prospective phase 2 clinical trial assessing the efficacy and safety of sirolimus in complicated vascular anomalies (NCT00975819). Sirolimus dosing regimens and toxicities were also assessed.ResultsEighteen children and young adults with GLA (n = 13) or GSD (n = 5) received oral sirolimus. Fifteen patients (83%) had improvement in one or more aspects of their disease (QOL 78%, clinical status 72%, imaging 28%). No patients with bone involvement had progression of bone disease, and the majority had symptom or functional improvement on sirolimus. Improvement of pleural and pericardial effusion(s) occurred in 72% and 50% of affected patients; no effusions worsened on treatment.ConclusionsSirolimus appears effective at stabilizing or reducing signs/symptoms of disease in patients with GLA and GSD. Functional impairment and/or QOL improved in the majority of individuals with GLA and GSD with sirolimus treatment.
| S-EPMC6428616 | biostudies-literature
Project description:The recently revised ISSVA classification approved in Melbourne in April 2014 recognizes generalized lymphatic anomaly and lymphatic malformation in Gorham-Stout disease. The 2 entities can overlap in presentation, as both are characterized by destructive lymphatic vessel invasion of the axial skeleton and surrounding soft tissues. At least at present, no standard therapeutic options exist, and due to the rarity of the disease, no clinical trials are available. We present 2 patients, 1 with generalized lymphatic anomaly and 1 with lymphatic malformation in Gorham-Stout disease, with severe exacerbation during puberty. The first child presented in florid pulmonary failure and pleural effusion, the other with severe pain due to bone destruction of the pelvis and inability to walk. Both were treated using individualized protocols. The manuscript describes the rationale for choosing sunitinib in combination with low-dose (metronomic) taxol. Both patients experienced clinical and radiologic response without major toxicities, suggesting that patients with rare conditions may benefit from individualized, molecularly based therapies.
| S-EPMC4617281 | biostudies-literature
Project description:Gorham-Stout disease is a rare condition characterized by the massive osteolysis replaced with vascular or lymphatic proliferation and fibrous tissue. We report the case of a 13-year-old boy complaining of occasional lower back pain. Spinal X-ray showed scoliosis and pelvic asymmetry, CT and MRI revealed multiple osteolysis replaced by soft tissue without osteogenesis in lumbar vertebrae, sacrum, iliac bone, ischium and acetabulum and horseshoe kidney. Laboratory and clinical findings excluded all other potential causes of osteolysis and the patient was diagnosed as Gorham-Stout disease, although no lymphangioma or hemangioma were found in the specimen of right iliac bone. The report shows an unusual, multifocal Gorham-Stout disease in a 13-year-old boy with horseshoe kidney, suggesting that the typical imaging findings and raising awareness of the disease can facilitate timely diagnosis for the disease.
| S-EPMC11381975 | biostudies-literature