The Gorham-Stout syndrome (Gorham's massive osteolysis). A report of six cases with histopathological findings.
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The Gorham-Stout Syndrome (Gorham's massive osteolysis) is a rare condition in which spontaneous, progressive resorption of bone occurs. The aetiology is poorly understood. We report six cases of the condition and present evidence that osteolysis is due to an increased number of stimulated osteoclasts. This suggests that early potent antiresorptive therapy such as with calcitonin or bisphosphonates may prevent local progressive osteolysis. (+info)
Winchester syndrome.
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Winchester syndrome was first described in 1969 and since then nine patients have been reported in the literature. The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. The etiology is unknown. Parental consanguinity supports autosomal inheritance. The diagnosis is based on clinical and radiological manifestations. We describe a case in a 7-year-old Pakistani boy. (+info)
Mediastinal lymphangioma and chylothorax: thoracic involvement of Gorham's disease.
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We report a case of mediastinal lymphangioma associated with Gorham's disease in a 38-year-old man who had suffered recurrent clavicular fractures during a seven-year period. Mediastinal widening associated with osteolysis of the clavicles and the sternal manubrium was revealed by chest radiography, while computed tomography demonstrated a cystic anterior mediastinal mass infiltrating mediastinal fat and associated with osseous destruction of the clavicles and manubrium. Chylothorax recurred during the course of the disease. (+info)
Wnt signalling during limb development.
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Wnts control a number of processes during limb development--from initiating outgrowth and controlling patterning, to regulating cell differentiation in a number of tissues. Interactions of Wnt signalling pathway components with those of other signalling pathways have revealed new mechanisms of modulating Wnt signalling, which may explain how different responses to Wnt signalling are elicited in different cells. Given the number of Wnts that are expressed in the limb and their ability to induce differential responses, the challenge will be to dissect precisely how Wnt signalling is regulated and how it controls limb development at a cellular level, together with the other signalling pathways, to produce the functional limb capable of coordinated precise movements. (+info)
Chylothorax in Gorham's disease.
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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. (+info)
Primary idiopathic osteolysis: description of a family.
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A clinical, analytical, and radiological study was carried out on three members of the same family with multicentric idiopathic osteolysis. Transmission appeared to be via the dominant autosome present in the mother and two daughters. In the daughters osteolysis was seen in the carpal and tarsal bones, whereas in the mother radiology showed it to be in the phalanges of the hands and feet. (+info)
Disappearing calvarium in Gorham disease: MR imaging characteristics with pathologic correlation.
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Gorham disease is a rare condition characterized by intraosseous neoplastic proliferation of hemangiomatous tissue with progressive, massive osteolysis. We present a pathologically proved case of Gorham disease that involved the left parietal bone in a 23-year-old man. Imaging studies including conventional radiography of the skull, CT, MR imaging, and Technetium-99 m (Tc-99 m) scintigraphy demonstrated a large skull defect without associated soft tissue mass over the left parietal skull. Contrast enhancement and increased isotope uptake along the margin of the defect were shown at gadolinium-enhanced T1-weighted MR imaging and Tc-99 m methylene diphosphate (Tc-99 m MDP) bone scintigraphy. Pathologic study revealed intraosseous angiomatosis at the periphery of the osteolytic skull lesion. (+info)
Gorham disease of the spine: a case report and treatment strategies for this enigmatic bone disease.
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Gorham disease is an extremely rare condition of unknown etiology characterized by progressive osteolysis. Only 28 cases of its spinal involvement have been reported, and some of those cases showed kyphosis, kyphoscoliosis, subluxation or dislocation. No definite regimen of treatment has been established yet. A 10-year-old boy presented with a severe and progressive kyphosis over 90 degrees caused by Gorham disease from T3 to T12. In situ posterior fusion with a hook and rod system and iliac bone grafts were performed, but after surgery, he had complete paraplegia and its cause was uncertain. Based on the unfortunate consequence of the present case and the review of the literature, we propose the treatment strategies for spinal Gorham disease. (+info)