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Background Lymphatic anomalies (LAs) include several disorders in which abnormal lymphatic tissue invades the neck, chest, and various organs. Progressive cases may result in lethal outcomes and have proven difficult to treat. Sirolimus is showing promising results in the management of vascular anomalies. We examined the efficacy and safety of sirolimus treatment in patients with progressive LAs. Methods All patients with LAs treated with sirolimus from May 2015 to September 2018 were included. They received oral sirolimus once a day and the dose was adjusted so that the trough concentration remained within 5–15 ng/mL. We prospectively reviewed the response to drugs (the response rate of radiological volumetric change of the target lesion), severity scores, reported quality of life (QOL), and adverse effects at 6 months after administration. Results Twenty patients (five with cystic lymphatic malformation (LM), three with kaposiform lymphangiomatosis, three with generalized lymphatic anomaly, six with Gorham-Stout disease, and three with central conducting lymphatic anomaly) were treated with sirolimus at our institution. Fifty percent of patients (10/20) demonstrated a partial response by a radiological examination and a significant improvement in disease severity and QOL scores ( P  = 0.0020 and P  = 0.0117, respectively). Ten patients who had no reduction in lesion size (stable disease group) showed no significant improvement in disease severity and QOL scores. Eighty percent of patients (16/20) had side effects, such as stomatitis, infection, and hyperlipidemia. Conclusions Sirolimus impacts the reduction of the lymphatic tissue volume of LMs and could lead to improvement in clinical symptoms and QOL. Trial registration UMIN Clinical Trials Registry, UMIN000016580 . Registered 19 February 2015,

Gorham-Stout syndrome is an aggressive, non-hereditary, and rare disease affecting bone metabolism. Its etiology and pathogenesis remain elusive. The syndrome manifests with diverse clinical symptoms, often leading to frequent misdiagnoses and presenting challenges in treatment. In this study, we report a case of cranial and maxillary osteolysis in a 47-year-old female patient with somatic mutations in the VEGF-A , VEGF-B , and VEGF-C genes and the EPHB4 gene. After treatment with bisphosphonates, this patient still had persistent resorption of the mandible, but switching to a teriparatide and denosumab combination yielded substantial improvement. This study is the first report to show that teriparatide combined with denosumab can be used to treat Gorham-Stout syndrome.

Background Gorham-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. Methods A 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. Results A 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). Conclusions GSD 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.

Background Gorham-Stout disease (GSD), also known as vanishing bone disease, is a rare osteolytic disorder characterized by progressive bone resorption and proliferation of lymphatic and vascular channels. Thoracic involvement often leads to life-threatening respiratory complications, yet clinical recognition remains delayed due to its rarity and heterogeneity. Objective This review aims to synthesize recent advances in the understanding of GSD pathogenesis, highlight the disproportionate burden of respiratory complications-particularly chylothorax-and propose an integrated diagnostic and therapeutic framework tailored to anatomical risk profiles. Methods A comprehensive literature review of 125 cases (2010-2025) was conducted, focusing on molecular mechanisms, clinical phenotypes, respiratory manifestations, and therapeutic outcomes. Key pathogenic pathways involving RANKL/RANK/OPG, M-CSF, VEGF, IL-6, and TNF-α were analyzed, alongside their immune-vascular interactions. Results Respiratory involvement was observed in over 40% of cases, with chylothorax accounting for the highest mortality risk. Aberrant lymphangiogenesis, immune dysregulation, and osteoclast hyperactivation formed the mechanistic triad driving disease progression. Imaging (CT/MRI/PET) and exclusion-based diagnostics remain essential. Sirolimus-based regimens, bisphosphonates, radiotherapy, and surgical interventions-particularly thoracic duct ligation and vertebral stabilization-comprise the current multimodal strategy. Conclusions GSD represents a clinically and mechanistically complex entity requiring early identification of respiratory threats, individualized treatment plans, and multidisciplinary coordination. Future research should prioritize biomarker discovery and prospective therapeutic trials to optimize outcomes in this rare but severe condition.

To assess the role and treatment response of percutaneous lymphatic embolization performed for non-traumatic chylothorax in patients with Gorham-Stout disease (GSD) with regard to thoracic duct embolization (TDE) and embolization of pleural or lymphatic collaterals. This retrospective single-institution study included consecutive patients who underwent percutaneous lymphatic embolization between January 2013 and December 2022. The patients underwent dynamic contrast-enhanced magnetic resonance lymphangiography, fluoroscopic intranodal lymphangiography, or both to evaluate the lymphatic anatomy prior to the intervention. The patients underwent TDE, pleural lymphatic embolization, or both, depending on the imaging findings. The data collected included imaging findings, procedural details, and clinical outcomes (clinical success was defined as removal of the drainage catheter without re-accumulation of effusion or improvement in clinical symptoms). Five male patients (aged 5-29 years) with chylothorax (n = 3) or hemorrhagic chylothorax (n = 2) were included. The key imaging findings included giant thoracic duct (n = 3) and dilated parietal pleural lymphatic system (n = 5). Twelve embolization sessions were performed (median, 2 sessions per patient; range 1-4 sessions). The embolized lymphatic structures included the thoracic duct (n = 4), parietal pleural lymphatics (n = 4), and other lymphatic collaterals (n = 3). The embolic agents used were glue and coils (n = 3), and glue only (n = 2). TDE alone achieved clinical success in only 25% of the cases (1 out of 4). With additional embolization of the parietal pleural lymphatics and other collaterals, clinical success was achieved in 80% of the cases (4 out of 5). One patient developed chylous ascites after the TDE. Percutaneous lymphatic embolization targeting the thoracic duct and pleural lymphatic collaterals is a feasible treatment option for GSD-related chylothorax.

Background Gorham-Stout disease (GSD) is a rare disease characterized by bone lesions and osteolysis. Therapy usually involves surgical resection. Sirolimus (Rapamycin) is used in some patients with GSD but the efficacy and safety of Sirolimus remains unclear. We propose that Sirolimus may be a novel therapeutic for GSD and present a case and review of literature that supports this. Case presentation We presented a 1-year-old boy with GSD involving osteolysis of the right humerus with fracture of the left femur complicated by an effusion in the right pleural cavity. X-rays showed osteolysis in the right clavicle. A large pleural effusion was observed on the right-side, and the left lung was significantly compressed. X-rays also showed a fracture of the left femur. A femoral biopsy was performed that showed necrotic tissue in the cortical bone and a large number of irregularly shaped capillaries that proliferated within the necrotic tissue. Dilated lymphatic vessels were seen adjacent to the cortex, with fibrous tissue hyperplasia. We prescribed sirolimus, which is an oral mTOR inhibitor, for two consecutive years. The boy recovered well without other progressive bone lesions and participates in normal daily activities. His growth and development are the same as that of his peers. Discussion and conclusion Gorham-Stout disease is a rare and enigmatic disease characterized by the presentation of an intraosseous lymphatic anomaly (LM), which results in progressive bone resorption. Based on this case report and a literature review, we conclude that sirolimus may be an effective alternative medication for GSD.

Purpose Gorham-Stout disease is a very rare disorder characterized by progressive bone erosion and angiomatous proliferation; its etiopathogenesis is still unknown, and diagnosis is still performed by exclusion criteria. The alteration of bone remodeling activity has been reported in patients; in this study, we characterized circulating osteoclast and osteogenic precursors that could be important to better understand the osteolysis observed in patients. Methods Flow cytometry analysis of PBMC (Peripheral Blood Mononuclear Cells) was performed to characterize circulating osteoclast and osteogenic precursors in GSD patients (n = 9) compared to healthy donors (n = 55). Moreover, ELISA assays were assessed to evaluate serum levels of bone markers including RANK-L (Receptor activator of NF-κB ligand), OPG (Osteoprotegerin), BALP (Bone Alkaline Phosphatase) and OCN (Osteocalcin). Results We found an increase of CD16 − /CD14 + CD11b + and CD115 + /CD14 + CD11b + osteoclast precursors in GSD patients, with high levels of serum RANK-L that could reflect the increase of bone resorption activity observed in patients. Moreover, no significant alterations were found regarding osteogenic precursors and serum levels of BALP and OCN. Conclusion The analysis of circulating bone cell precursors, as well as of RANK-L, could be relevant as an additional diagnostic tool for these patients and could be exploited for therapeutic purposes.

Background Gorham-Stout disease is a rare bone disorder. Here, we present a case of Gorham-Stout disease diagnosed during follow-up of a patient with cholesteatoma; the disease affected the temporal bone and other sites of the skull. To the best of our knowledge, this is the first report of Gorham-Stout disease diagnosed with recurrent cerebrospinal leakage after surgery to treat cholesteatoma. Case presentation A 25-year-old male patient re-presented to our department for the first time in 7 years with otorrhea in the right ear and recurrent meningitis. The patient had a history of multiple surgeries for cholesteatoma and suffered from recurrent cerebrospinal fluid leakage, which initially was thought to be caused by recurrence of cholesteatoma. Therefore, skull base reconstruction was planned. However, the underlying cause was identified eventually as defects in the temporal bone caused by massive osteolysis due to Gorham-Stout disease. Skull base reconstruction was abandoned because the osteolysis was considered to be progressive. Conservative treatment with infectious control was implemented as an alternative. Conclusion This case describes unusual temporal bone osteolysis after cholesteatoma surgery and the importance of considering the possibility of multiple concurrent diseases in such individuals. The distinguishing features of this case are the fact that the temporal bone had disappeared, and deconstruction was complicated by infection and inflammation caused by cholesteatoma, surgical invasion, and Gorham-Stout disease. Appropriate diagnosis saved the patient from ineffective multiple surgeries for cerebrospinal fluid leakage or cholesteatoma, and improved his quality of life.

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. Clinical features, imaging data, treatment, and published GSD cases are discussed. Case Presentation. We report the case of a 14-year-old male with GSD (confirmed by pathology and genetic analysis of bone tissue due to a previous fracture), which mainly involved the spine and caused progressive scoliosis. Scoliosis was defined as a right upper thoracic curve with a Cobb angle of 61° and a left major thoracic curve with a Cobb angle of 50°. Preoperative magnetic resonance imaging of the spine in the T2-weighted phase showed wedge-shaped changes in T4–9, with substantial high signal and no intradiscal abnormalities. The patient successfully underwent scoliosis correction from T2–L2. After surgery, the patient was treated with sirolimus for osteoporosis, and the effect of the scoliosis correction remained stable after 2 years of follow-up. This case documented the rare phenomenon of spinal lamina chylous leakage caused by GSD. Corrective surgery combined with sirolimus achieved good results in the treatment of scoliosis caused by GSD. Conclusion This study provides an important reference for the diagnosis and treatment of GSD involved with spine.

Gorham Stout disease (GSD) is a rare disease characterized by the proliferation of endothelial lined vessels and replacement of bone by fibrous tissue. The main imaging features are progressive osteolysis and cortical resorption. Temporal bone involvement is rare but presents as a destructive bone lesion that may be misinterpreted as more common lytic processes in the pediatric population, such as infection or Langerhans cell histiocytosis. GSD of the temporal bone is associated with cerebrospinal fluid (CSF) leaks, may present with otorrhea, and can mimic other causes of ear drainage. Here, we report the clinical course, imaging features, and outcomes of a 3-year-old girl with GSD of the temporal bone presenting with CSF leak initially attributed to infection.