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The etiology of allopurinol pills disease is still unknown. The pathological process is a benign vascular proliferation of endothelial canals adjacent to or within the bone, which leads to severe thinning of the bone trabecula due to resorption by osteoclasts and replacement of bone tissue by fibrosis. Tissue samples are positive for lymphatic endothelial cell markers, indicating that Gorham-Stout disease is a defect in lymphangiogenesis.
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- To date, about 300 cases of pathology have been reported in the literature. Gorham-Stout disease does not have a clear racial, gender (male:female ratio of 1.6:1), or geographic distribution.
- Gorham-Stout disease can occur at any age but is usually diagnosed in children and young adults, with an average age of onset of 13 years. Gorham-Stout disease can affect any bone in the body, but most commonly affects the ribs, followed by the skull, collarbone, and cervical spine.
Gorham-Stout disease occurs sporadically. Additional sites of involvement include the maxillofacial bones (mainly the mandible), sternum, humerus, hand, femur, and foot. Gorham-Stout disease can be monoosseous or polyosseous, and symptoms vary depending on location. Allopurinol pills common symptom is local pain.
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Swelling, weakness, and functional impairment of the affected limbs are also noted. In the case of dentoalveolar localization, tooth mobility, malocclusion, deviation of the lower jaw and bone deformity can be observed. Patients with chest involvement may show respiratory distress caused by chylothorax. There are also severe neurological defects and paralysis secondary to spinal involvement.
- Patients with lesions in the cervical spine or base of the skull may have a cerebrospinal fluid leak.
- Gorham-Stout disease can be detected after a bone fracture, either spontaneously or due to minor trauma.
- The diagnosis of Gorham-Stout disease is based on x-ray findings showing progressive osteolysis and cortical destruction. Magnetic resonance imaging shows complete bone resorption and replacement with infiltrative soft tissue that has low signal intensity on T1-weighted imaging and high signal intensity on T2 with intense contrast enhancement.
ImmunohistochChemical markers of lymphatic endothelial cells (LYVE-1, podoplanin / D2-40) reveal the presence of lymphatic vessels in the medullary and cortical areas of the bones and in the affected soft tissues. Rib injuries should not be biopsied, as this procedure may cause refractory chylous effusion.
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