Treatment for Gorham-Stout syndrome with a combination of teriparatide and denosumab.

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.

Gorham-Stout syndrome, the challenge in diagnosis and unique in treatment: a case report.

BACKGROUND: Gorham-Stout disease is a rare condition with fewer than 400 reported cases in the literature. The presentation of Gorham-Stout disease varies on the basis of location, extent, fracture, and accompanying symptoms. It lacks a specific histopathological appearance but is characterized by vascular changes and the absence of cellular atypia. CASE PRESENTATION: This article presents a case study of a 16-year-old Persian boy with an entire femur with Gorham-Stout disease, highlighting the difficulties in managing this condition. The lack of a clear diagnosis resulted in prolonged procedures, delayed medical treatments, and ultimately required total femoral replacement with an endoprosthesis. CONCLUSION: It is important to note that raising awareness of this disease and its potential complications can facilitate timely and appropriate treatment for patients presenting in the early stages of the disease.

The spectrum of imaging manifestations of Gorham-Stout disease: a novel dynamic contrast-enhanced MR lymphangiography.

BACKGROUND: To describe the radiological features of Gorham-Stout disease (GSD) as evaluated using plain radiography and dynamic contrast-enhanced magnetic resonance lymphangiography (DCMRL) imaging techniques. METHODS: Clinical and conventional imaging data were retrospectively reviewed for 15 patients with GSD between January 2001 and December 2020. After December 2018, DCMRL examinations were performed for lymphatic vessel evaluation in patients with GSD and reviewed in four patients. RESULTS: The median age at diagnosis was 9 years (range: 2 months-53 years). The clinical manifestations were dyspnea in seven patients (46.7%), sepsis in 12 (80.0%), orthopedic problems in seven (46.7%), and bloody chylothorax in seven (46.7%). The common sites of osseous involvement were the spine (73.3%) and pelvic bone (60.0%). Among the non-osseous involvements, peri-osseous infiltrative soft-tissue abnormalities adjacent to the area of bone involvement were the most common (86.7%), followed by splenic cysts (26.7%) and interstitial thickening (26.7%). DCMRL demonstrated weak central conducting lymphatic flow in two patients with abnormal giant tortuous thoracic ducts and no flow in one patient. All patients who underwent DCMRL in this study presented with altered anatomical lymphatics and functional flow with collateralization. CONCLUSION: DCMRL imaging and plain radiography are very useful for determining the extent of GSD. DCMRL is a novel imaging tool for the visualization of abnormal lymphatics in patients with GSD, which helps in further treatment. Therefore, in patients with GSD, it might be necessary to obtain not only plain radiographs but also MR and DCMRL images.

A case of restitution ad integrum in Gorham-Stout disease.

Gorham-Stout disease (or "vanishing bone" disease) is a rare mono or polyostotic disease of unknown etiology, characterized by intraosseous angiomatous proliferation leading to bone resorption. We report the case of a 17-year-old woman presenting with symptomatic osteolytic lesions of the frontal vault. Imaging was suggestive of Gorham-Stout disease without argument for other diagnoses. An unusual evolution of the "vanishing bone" lesions was observed on the scan after one year, with a full recovery of the lytic lesions. This report shows for the first time a spontaneous restitutio ad integrum of bone matrix in Gorham-Stout disease.

Gorham-Stout syndrome: A chylothorax disease with bony destruction: A case report.

RATIONALE: Gorham-Stout syndrome is a sporadic condition characterized by a tumor-like lesion with extensive osteolysis, severe symptoms, and a poor prognosis. Poor prognostic indicators include osteolytic lesions of the spine and pleura effusion. PATIENT CONCERNS: A 67-year-old Chinese man with five months history of chest tightness presented to our institution with aggravated shortness of breath. Ultrasonography demonstrated hydrothorax on the right side. The patient's imaging studies (computerized tomography [CT] scan, magnetic resonance imaging, and positron emission tomography [PET]/CT) revealed osteolytic lesions (the skull, several spines, several ribs, both shoulder blades, and the pelvis). DIAGNOSES: Gorham-Stout syndrome. (4) Interventions: We advised the patient to follow a low-fat diet. On the patient, we performed a superior vena cava angiography. The injection of zoledronic acid was used to prevent bone loss. OUTCOMES: We found resolution of chylothorax after a low-fat diet, superior vena cava angiography and injection of zoledronic acid. LESSONS: The possibility of Gorham -Stout syndrome should be ruled out in patients with clinical chylothorax. The relief of chylothorax requires comprehensive treatment.

Difficult Therapeutic Decisions in Gorham-Stout Disease-Case Report and Review of the Literature.

Gorham-Stout disease (GSD) is a very rare, life-threatening condition characterized by the proliferation of lymphatic vessels and osteolysis. Unfortunately, no standard treatment has been determined for management of GSD. The available therapies are not equally effective and carry substantial side-effects. We report a 42-year-old female with GSD manifested in multifocal osteolysis and chronic chylothorax and ascites. The combined treatment with sirolimus and zoledronic acid due to its synergism of action was introduced. To our knowledge, this is the first Polish case report of adult patients with Gorham-Stout disease.

Gorham-Stout disease of skull base leading to cranial settling and rhinorrhea: a case-based review.

PURPOSE: Gorham-Stout disease (GSD) is a rare progressive osteolytic disorder, theoretically caused by lymphovascular endothelial proliferation. Spinal involvement carries a dismal prognosis because of neurological consequences. Lesions of the skull base are extremely rare and entail even more devastating prognosis due to cervical instability and cerebrospinal fluid (CSF) leakage. Due to scarcity of this condition, the aim of this study was to give an overview of skull base GSD and review the cases with such condition reported in the literature. METHODS: In this case-based review, different aspects of skull base GSD are discussed, and a sample clinical case of GSD leading to cranial settling and rhinorrhea is presented. The characteristics, symptoms, and managements of all English-language PubMed-reported cases were reviewed, and different features of presentation and methods of treatments were analyzed. RESULTS: Based on the literature review, most of the cases encountered serious problems in the course of the disease. Meningitis/CSF leakage was detected in 12 of 26 collected cases, followed by hearing loss/tinnitus/otitis media in 10 cases, headache in 8, and neck pain/stiffness in 8 patients. Despite a variety of treatments, improvement was only observed in 8 of 26 collected cases. The reminders showed either stable condition or worsening and death. CONCLUSION: All cases of GSD of the skull base should be evaluated for rhinorrhea/otorrhea and cranial settling, both of them being among the most life-threatening conditions. Since definite treatment, in order to stop disease progression, is sometimes impossible, symptomatic and supportive treatment should be started as possible.

Non-secretory myeloma in young man mimicking the Gorham disease: case report and the literature review.

Multiple myeloma is a neoplasm of plasma cells affecting mostly the elderly with incidence peaks between 60 and 70 years. This disease is exceedingly rare in younger people, especially in adults under 30-year-old. Non-secretory multiple myeloma accounts for 1-5% of all cases of multiple myeloma. It is also a rare condition in young adult patients, and only six cases have been reported [1]. We herein describe a rare case of non-secretory myeloma in a 22-year-old male, explaining from chest wall pain, without general manifestation. Plain radiography and CT scans revealed diffuse osteolytic lesion mimicking the Gorham disease. A bone marrow biopsy was conducted, revealing the diagnosis of myeloma.

Gorham Stout disease of the temporal bone with cerebrospinal fluid leak.

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.

Gorham Stout disease: 3 additional cases with 2 very rare polyostotic diseases.

Gorham Stout disease is a very rare monostotic or polyostotic osteolysis and physiopathology of the osteolysis is not yet fully understood. Three new cases are reported with their evolution and treatment. Among these 3 cases, two are very rare cases of polyostotic involvement. One patient finally deceased from respiratory complications despite limb amputation. The two others are alive. Both needed final reconstruction with massive bone allograft for one and with a prosthesis for the other. Monostotic osteolysis is the most frequent presentation of Gorham Stout disease and extensive polyostotic osteolysis is very rare. Treatment methods vary from one clinic to another, from drug treatment to surgical treatment with or without radiotherapy. Sometimes, as a last solution, an amputation of the affected limb is performed. The prognosis depends on the affected region and the reponse to various treatments. Chylothorax seems to be a factor of poor prognosis.

Gorham-Stout disease involving ipsilateral clavicle and scapula in a child - a case report focusing on imaging and histopathological features of this extremely rare condition.

Gorham-Stout disease (GSD) is a very rare entity of unknown etiology, characterized by excessive intra-osseous proliferation of blood or lymphatic vessels, resulting in progressive resorption of bone matrix and destruction of bone. To date we have found only seven published cases concerning fully confirmed GSD of the shoulder girdle bones in children. Our case concerns an 8-year-old boy with involvement of the left clavicle and scapula. The knowledge of imaging and histopathological features is crucial for establishing the diagnosis of GSD, therefore the exchange of experiences in this field is essential for improving the care of affected patients.

Gorham-Stout Disease with Multiple Bone Involvement-Challenging Diagnosis of a Rare Disease and Literature Review.

Gorham-Stout disease is a rare disorder, which may result in a poor prognosis. This disease, a rare lymphangiomatosis, is defined by progressive bone disappearance due to massive unicentric and multicentric osteolysis. Osteolytic lesions of the spine and pleura effusion are poor prognostic factors. Herein, we will present a case where the onset of disease occurred at the age of 18 with asthenia, myalgia, and major bone pain, followed by incomplete motor deficiency in the lower limbs and, later, in the upper limbs. Imaging studies (CT scan and MRI) of the patient revealed osteolytic lesions (cervical and thoracic vertebrae, rib, and clavicle) and a pathological fracture of the C7 vertebra. Surgical procedures undertaken involved replacing the affected vertebrae with bone grafting and prosthesis. The investigations performed allowed for the exclusion of inflammation, thyroid or parathyroid disease, lymphoma, neoplasia, or autoimmune disorders. A bone marrow biopsy showed osteolysis, the replacement of bone tissues with connective tissue, and chronic non-specific inflammation. The evolution was negative with almost complete osteolysis of the left clavicle, the emergence of new osteolysis areas in the lumbar vertebrae, pelvic bones, and the bilateral proximal femur, splenic nodules, chylothorax, and associated major neurological deficits. Unfortunately, this negative evolution resulted in the patient's death a year after onset.

Young adult with Gorham's disease presenting in an emergency department: a case report.

INTRODUCTION: Gorham's disease is a very rare musculoskeletal disorder characterized by progressive resorption of one or more skeletal bones. Most of the 200 cases reported earlier are diagnosed before the age of 40 years. Due to rarity, the diagnosis of Gorham's disease in the Emergency Department may be very difficult. CASE PRESENTATION: We report a case of Gorham's disease. A 23-year old Caucasian man presented to the Emergency Department with a significant loss of power and sensation of the lower limbs and lower torso. Clinical examination, computed tomography, and magnetic resonance imaging revealed resorption of the ribs and vertebrae, severe kyphosis, and spinal stenosis in the thoracic area. The patient underwent several surgical procedures, including spondylodesis and decompression, and made a good initial recovery. Biopsy confirmed the diagnosis of Gorham's disease. CONCLUSION: We present a young man with Gorham's disease visiting the Emergency Department. After the proper diagnosis and treatment, our patient had good outcome, although the etiology of this rare disease is uncertain.

Radiographic extent of maxillofacial Gorham's disease and its impact on recurrence: A systematic review.

OBJECTIVE: This systematic review assessed the radiographic extent of maxillofacial Gorham's disease and its impact on recurrence. STUDY DESIGN: PubMed and Cochrane databases were searched. The key words were (Gorham Disease OR Vanishing Bone Disease OR Gorham Stout Syndrome) AND (Jaw OR Maxilla OR Mandible OR Maxillofacial). RESULTS: Forty-one cases from 39 articles were included. Based on radiographic extent, the lesions were classified as large or small. Most cases occurred in the mandible (24), followed by a combination of maxilla and/or mandible and other bones (12), both mandible and maxilla (3), and maxilla only (2). Only mandibular cases were analyzed for radiographic extent. Of the 24 mandibular lesions, 16 were large and 8 were small. Nine of the large lesions occurred in the young age group with 2 recurrences, followed by 5 in the middle-aged group with 1 recurrence. Small lesions were nearly equally distributed over the age groups, with 2 recurrences in the middle-aged group and 1 recurrence in the adult age group. Age, sex, and lesion size had no significant effect on recurrence. CONCLUSIONS: Radiographic extent of the lesion does not impact recurrence, suggesting a possible existence of aggressive and nonaggressive variants of maxillofacial Gorham's disease.

Gorham-Stout disease: interesting cause of pleural effusion.

Gorham-Stout disease (GSD) is a rare disorder characterised by massive painless osteolysis due to lymphangiomatous tissue progression. GSD's pathogenesis is still unclear, but osteoclasts' activation may play a role in its pathogenesis. There are multiple complications associated with GSD. One of the most severe and life-threatening complications is a chylothorax. Herein we discuss a case of a patient with a history of GSD who presented to the hospital with progressive dyspnoea secondary to a large left-sided pleural effusion, which was later confirmed to be a chylothorax. We will further discuss the current literature and treatment of chylothorax associated with GSD.

Gorham-Stout Disease Resulting in Spinal Deformity Treated by Fusion Surgery Combined With Everolimus Therapy: A Case Report.

CASE: Gorham-Stout disease (GSD) is a rare disorder characterized by progressive localized osteolysis and lymphatic malformation. A 26-year-old woman with GSD presented to our hospital with a Cobb angle of 100° and a kyphosis angle of 88°. Everolimus therapy was initiated to control the disease prior to surgery. After halo-gravity traction for 4 weeks, we performed anterior and posterior spinal fusion. Postoperative computed tomography revealed satisfactory bone union and no significant loss of correction 1 year post-surgery. CONCLUSION: This case suggests that anterior and posterior spinal fusion combined with everolimus therapy can be a therapeutic option for GSD.