• Gorham–Stout disease
• atenolol
• bisphosphonate
• sirolimus
• vanishing bone disease

• 5-2022-D0737-00007 Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease in Korea

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.

• Gorham-Stout disease
• osteolysis
• spine lesions

• Alpha-2b interferon
• Bisphosphonate
• Chylothorax
• Gorham-Stout disease

• Aged
• Deformity
• Orthoses
• Osteoporosis
• Spondylodiscitis

Gorham’s disease (GSD) is a rare osteolytic disease with unclear etiology, and no known prevention or effective treatment. Here we report a new surgical treatment for a case of GSD in September 2017.

We report GSD in a 52-year-old woman. She had disappearance of her humeral head and a defect of the glenoid bone in her left shoulder joint, which were serious obstacles to joint function. We used an autologous iliac bone graft to repair the glenoid bone defect and a reverse total shoulder arthroplasty. After surgery, humeral osteolysis did not continue, and her shoulder function recovered well.

This case suggests that autologous bone grafting can still be used to treat GSD despite it being an osteolytic disease. The successful treatment suggests that this method could be used for GSD in other bones.

• Autologous iliac bone graft
• Gorham’s disease
• Reverse total shoulder arthroplasty
• Shoulder joint function

•

Gorham-Stout disease (GSD) is a very rare idiopathic bone disorder characterised by spontaneous and progressive osteolysis, associated with angiomatous proliferation and soft tissue swelling without new bone formation.

Gorham-Stout disease (GSD), or vanishing bone disease, is a very rare condition of unknown aetiology. It is characterised by progressive osteolysis and angiomatosis.

We report the discovery of this very rare disease following a trivial deciduous tooth extraction in a 14-year-old female. We focus initially on the difference between the preoperative orthopantomography and the whole-body computed tomography and magnetic resonance images obtained post-haemorrhage, and then on the improvement of strategies for the correct diagnosis and treatment of this disease.

Bone loss and the proliferation of vascular structures can occur in a single bone or spread to soft tissue and adjacent bone; areas commonly affected by GSD include the ribs, spine, pelvis, skull, clavicle, and the maxillofacial area. The clinical presentation of GSD includes pain, functional impairment, and swelling, although a few asymptomatic cases have been reported, similar to our case.

We report a very rare case of this multicentric disease in an asymptomatic child who presented for dental extraction, almost died, and was then diagnosed with and treated for GSD.

• Case report
• Gorham-Stout disease
• Haemorrhage
• Oral surgery

• Disappearing bone disease
• Gorham-Stout disease
• Osteomyelitis
• Outcomes
• Postoperative
• Progressive massive osteolysis

Gorham’s disease is a rare osteolytic disorder characterized by progressive resorption of bone and replacement of osseous matrix by a proliferative non-neoplastic vascular or lymphatic tissue. A standardized treatment protocol has not yet been defined due to the unpredictable natural history of the disease and variable clinical presentations. No single treatment has proven to be superior in arresting the course of the disease. Trials have included surgery, radiation and medical therapies using drugs such as calcium salts, vitamin D supplements and hormones. We report on our advantageous experience in the management of this osteolyic disorder in a case when it affected only the skull vault. A brief review of pertinent literature about Gorham’s disease with skull involvement is provided.

A 25-year-old Caucasian male presented with a skull depression over the left fronto-temporal region. He noticed progressive enlargement of the skull defect associated with local pain and mild headache. Physical examination revealed a tender palpable depression of the fronto-temporal convexity. Conventional X-ray of the skull showed widespread loss of bone substance. Subsequent CT scans showed features of patchy erosions indicative of an underlying osteolysis. MRI also revealed marginal enhancement at the site of the defect. The patient was in need of a pathological diagnosis as well as complex reconstruction of the afflicted area. A density graded CT scan was done to determine the variable degrees of osteolysis and a custom made allograft was designed for cranioplasty preoperatively to allow for a single step excisional craniectomy with synchronous skull repair. Gorham’s disease was diagnosed based on histopathological examination. No neurological deficit or wound complications were reported postoperatively. Over a two-year follow up period, the patient had no evidence of local recurrence or other systemic involvement.

A single step excisional craniectomy and cranioplasty can be an effective treatment for patients with Gorham’s disease affecting the skull vault only. Preoperative planning by a density graded CT aids to design a synthetic bone flap and is beneficial in skull reconstruction. Systemic involvement is variable in this patient’s population.

• Diagnosis
• Gorham-Stout syndrome
• Histology
• Treatment
• Vanishing bone disease

Gorham's disease is a rare disorder characterized by osteolysis and abnormal vascular growth within bones. Diagnosis of Gorham's disease is often delayed and for accurate and early diagnosis high clinical suspicion is crucial. No specific treatment is available. Management options include surgery, radiation therapy and medical therapy. We aimed to present the first case of Gorham’s disease with chest wall involvement in Iran. By review of the literature we discussed important issues of this rare disease including clinical findings, diagnosis and treatment options.

We present a 48-year-old man with a history of dyspnea following a blunt chest trauma who was admitted to our clinic several times due to reaccumulation of pleural fluid and chylothorax. Gorham's disease was finally established according to clinical manifestations and radiological findings including massive osteolysis in his left ribs and also histological examination.

According to review of the literature and considering all treatment modalities the patients was successfully treated with a combination of radiotherapy, pamidronate and thalidomide. We suggest that this disease should be considered among differential diagnoses of patients with chest pain, pleural effusion and/or chylothorax with an unknown reason and more importantly history of chest trauma. In suspected cases, it is essential to examine biopsy specimens of the bone adjacent to the inflammated tissues in order to confirm diagnosis.

• Chylothorax
• Gorham Disease
• Osteolysis

• Angiomatosis/complications
• Angiomatosis/drug therapy
• Bone Cysts/complications
• Bone Cysts/drug therapy
• Diphosphonates/therapeutic use
• Humans
• Lumbar Vertebrae
• Male
• Spinal Diseases/complications
• Spinal Diseases/drug therapy
• Young Adult

• bone endothelium metabolism
• bone vascular biology

• Adult
• Bone Transplantation/methods
• Female
• Finger Phalanges
• Humans
• Ilium/transplantation
• Osteolysis, Essential/surgery

• Bone Neoplasms/pathology
• Child
• Female
• Humans
• Lymphangioleiomyomatosis/pathology
• Lymphangioma/pathology
• Splenic Neoplasms/pathology

• essential osteolysis
• bone diseases
• bone resorption

• Diagnosis, Differential
• Female
• Humans
• Male
• Osteolysis, Essential/diagnosis
• Osteolysis, Essential/etiology
• Osteolysis, Essential/therapy

Type IV osteolysis or Gorham-Stout syndrome is a rare condition characterized by recurrent vascular tumors that disrupt normal anatomical architecture. Gorham-Stout syndrome is most commonly associated with the skeletal system with resulting replacement of bone with scar tissue following tumor regression. The loss of entire bones has given Gorham-Stout syndrome the moniker vanishing bone disease. Natural progression of Gorham-Stout syndrome is characterized by spontaneous disease resolution. However, rare variants of recurrent, progressive, and/or systemic disease have been reported. We present a patient with a history of recurrent Gorham- Stout disease refractory to all treatment options considered. In addition to skeletal disease, our patient had soft tissue and cutaneous involvement, thus reflecting the more aggressive disease variant. Previous surgical attempts to control disease had been ineffective and the patient was referred to us for radiation therapy. Treatment with external beam radiation therapy resulted in good local control and symptom palliation, but full disease resolution was never accomplished. In addition to presentation of this patient, a review of the literature on etiological hypotheses and past/future treatment options was conducted and is included.