Multicentric Disappearing Bone Disease treated with Arthroplasty

Multicentric disappearing bone disease, or Gorham disease, is a rare entity. A middle age woman, presented to us with left sided antalgic gait and severe bony deformity of her left knee. Radiograph revealed massive bone defect of the medial condyle of the left tibia with subluxation of the knee joint. She was scheduled for knee replacement in six months. However, she developed another lesion over the right hip that typically mimicked the disease progression of disappearing bone disease. The right femoral head vanished progressively within three months without significant history of infection or trauma. Subsequent bone biopsy of the right femoral head and left tibia condyle confirmed the diagnosis. Total knee replacement was carried out for her left knee. She remained pain free on her left knee. A year later, after confirming by sequential radiographs that the osteolysis had stopped, total right hip replacement was performed. Five years later, she remained pain free and both the arthroplasties were stable.

Gorham’s Disappearing Bone Disease: A Rare Cause of Extensive Bone Destruction

Osteolytic disease of the bones have a myriad range of aetiology. One rare cause is Gorham’s disease or disappearing bone disease. This disease is a diagnosis by exclusion using correlation made with clinical presentation, radiological findings and histopathological confirmation. Although many different therapies have been advocated, none have been successful in fully controlling this disease. We present a case that was detected in a Chinese lady using diagnostic imaging, confirmed with computed tomography guided biopsy and successfully treated with joint reconstruction using endoprosthesis.

Gastrointestinal Tract Involvement of Gorham's Disease with Expression of D2-40 in Duodenum / 대한소아소화기영양학회지

We present a case of a 13-year-old boy with Gorham's disease involving the thoracic and lumbar spine, femur, and gastrointestinal (GI) tract, which was complicated by recurrent chylothorax and GI bleeding. The presenting symptoms were intermittent abdominal pain, back pain, and melena. Esophagogastroduodenoscopy and colonoscopy showed no abnormal lesions, but duodenal biopsy showed marked dilation of the lymphatics in the mucosa and submucosa, which revealed positive staining with a D2-40 immunohistochemical marker. In cases of GI bleeding with osteolysis, the expression of a D2-40 marker in the lymphatic endothelium of the GI tract may help to diagnose GI involvement in Gorham's disease. To the best of our knowledge, this is the first case report to pathologically demonstrate intestinal lymphatic malformation as a cause of GI bleeding in Gorham's disease.

Gorham's Disease of Spine

Gorham's disease is a rare disorder characterized by clinical and radiological disappearance of bone by proliferation of non-neoplastic vascular tissue. The disease was first reported by Jackson in 1838 in a boneless arm. The disease was then described in detail in 1955 by Gorham and Stout. Since then, about 200 cases have been reported in the literature, with only about 28 cases involving the spine. We report 2 cases of Gorham's disease involving the spine and review related literature to gain more understanding about this rare disease.

Doença de Gorham da escápula e clavícula: relato de caso e evolução de dois anos de uma afecção rara / Gorham's disease of scapula and clavicle: case report and two-year follow-up of a rare disorder

A doença de Gorham é uma rara desordem osteolítica, de etiologia controversa, que pode afetar qualquer osso. O substrato histopatológico é a substituição óssea por uma formação expansiva de natureza vascular agressiva, não neoplásica. Descrevemos os achados radiográficos, tomográficos e de ressonância magnética de um caso desta afecção acometendo a escápula esquerda e, dois anos depois, a clavícula ipsilateral.

Gorham's disease is a rare osteolytic disorder of still controversial etiology that may affect any bone. The histopathological substrate for such a condition is the replacement of normal bone by aggressive non-neoplastic expansile vascular tissue. The authors describe radiographic, computed tomography and magnetic resonance imaging findings in a case of this entity initially affecting the left scapula and, two years later, the ipsilateral clavicle.

Vanishing bone disease (Gorham's disease) - A rare occurrence of unknown etiology.

A 20-year-old male patient presented with painful swelling around left elbow joint. Radiographic examination revealed osteolytic lesion with pathological fracture of lower end of humerus and upper radius. Upper end of ulna was completely absent along with bony erosion. Histopathology of the bony tissue revealed hemangioma-like lesion composed of vascular channels lined by benign endothelium replacing bone. The diagnosis of Gorham's massive osteolysis was made. Gorham's disease is a benign self-limiting condition affecting any age, may involve any part of the skeleton and is characterized by replacement of bone by hemangiomatous tissue resulting in formation of lesions exhibiting massive osteolysis, which may be to the extent of disappearance of the affected bone in radiograph. This nonhereditary case was not associated with nephropathy, which is often a coexistent condition. The case is being reported for its rarity.

Disappearing Bone Disease with Disappearing Spleen.

A 6-year-old girl who reported for pain abdomen was incidentally detected to have multiple osteolytic lesions on X-ray. She was diagnosed as a case of Gorham’s disease following confirmation with histopathology and kept on close follow–up. She was admitted again after 2 years for fever and investigations revealed an absent spleen apart from multicentric osteolytic lesions. This is the first case reported of a child with Gorham’s disease who has had an auto-splenectomy on follow-up.

Anesthetic experience in a patient with Gorham's disease : A case report

Gorham's disease is a very rare non-familial disorder of uncertain etiology characterized by uncontrolled non-neoplastic proliferation of vascular or lymphatic channels within bone, leading to resorption and replacement of osseous matrix with angiomatous tissue. Spinal cord compression due to cervical spine osteolysis can lead to respiratory problems due to chylous pleural effusion or cardiac dysfunction due to chylous pericardial effusion, which can be life threatening and cause high morbidity and mortality. We present a 32-year-old female patient complicated by chylothorax who underwent general anesthesia for a bone biopsy.

Gorham's Disease Misdiagnosed as a Simple Compression Fracture in the Thoracic Spine: A Case Report / 대한척추외과학회지

Gorham's disease is a rare condition of unknown etiology that is characterized by progressive osteolysis. A 48 year-old woman had a burst fracture at T10, which was treated by pedicle screw instrumentation at another hospital. She was transferred due to progressive paraparesis, which was not observed initially. An MRI demonstrated severe cord compression at the T10 level. Under the assumption that the patient had a highly vascular metastatic tumor, an anterior decompression with instrumentation was performed. However, neurologic symptoms and bone destruction worsened after six weeks postoperatively. A repeat decompression was performed through the posterior route and long-level pedicle screw instrumentation was applied. After the second operation, Gorham's disease was confirmed histologically. Care must be taken not to overlook a pathologic fracture caused by a spinal tumor as a simple fracture, especially an osteoporotic one.

Chylothorax in Gorham's Disease

A 25-yr-old woman presented with a right pleural effusion. Destruction of 9th through 12th ribs, adjacent vertebral bodies, and transverse processes was noted on plain radiograph and a large low-attenuated, irregular shaped mass lesion with peripheral rim enhancement, destroying vertebral body and transverse process, was revealed on the computed tomographic scan. Magnetic resonance imaging showed high signal on T1- weighted image and iso- and low signal on T2-weighted image for the mass lesion replacing the vertebral bony cortex and marrow space. An open rib biopsy revealed the histopathological changes of Gorham's disease (essential osteolysis), even though only bloody fluid filling the empty space and rib and vertebral transverse process destruction were grossly observed on operation. Even though there was no definite response to radiotherapy and pleurodesis, the patient showed stable condition up to 20 months after diagnosis.

Gorham's Disease Involving the Shoulder Joint: A Case Report / 대한정형외과학회잡지

Gorham's disease is a rare vanishing bone disease characterized by massive osteolysis and replacement with numerous wide engorged capillaries. The exact nature and effective treatment modalities for this condition are as yet unclear. A fifty-years old female, who had unexplained destruction of the left shoulder joint, was diagnosed as having Gorham's disease according to histopathological (capillary tissue aggregation) and immunopathological (immunoreactions with IL-1alpha and IL-6) studies. Although we treated her with antiresorptive medication and radiotherapy, which are current treatment modalities, the destructive process progressed. We report upon this case and provide a review of its literature.