Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.24.3 (collagenase)
 18,340 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Abnormal collagen fibrils were identified by transmission electron microscopy in 22 human tumors of differing histogenesis. They were found in a review of 1400 electron microscopy cases. Abnormal collagen fibrils, described by others as amianthoid fibers, composite collagen, collagen flowers and intrafibrillar collagen dysplasia, have been found only rarely in human tumors but commonly in certain connective tissue diseases such as pseudoxanthoma elasticum, Ehlers-Danlos syndromes, Marfan's syndrome, osteoarthritic cartilage, and emphysematous lung among others. Abnormalities in the cases described here included thickened fibrils, fibrillar degeneration of fibrils and irregular external contours. Proposed mechanisms for their formation have included degeneration possibly due to hypoxia or collagenase activity, abnormal collagen biosynthesis, and abnormal tissue levels of glycosaminoglycans. The finding of abnormal collagen fibrils in these 22 human tumors shows that their occurrence is more common than is indicated by previous published reports. Most of the tumors containing abnormal collagen fibrils were mesenchymal or soft tissue tumors. Four neuroendocrine neoplasms had abnormal collagen fibrils.
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PMID:Ultrastructure of abnormal collagen in human tumors. 373 41

Mitral valve prolapse (MVP) has been associated with several connective tissue disorders, including Marfan's syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. We present a case of MVP in a patient with epidermolysis bullosa. The authors are aware of only one previously reported case of this association. A 49-year-old man with a history of epidermolysis bullosa since childhood was admitted to our institution due to dyspnea on effort. On general examination he was observed to have alopecia, deformities in his nails, and fusions of his fingers. Transesophageal echocardiography confirmed the presence of MVP. In addition, coronary angiography showed three-vessel disease. Mitral valve replacement (ATS valve 25 mm) and coronary artery bypass grafting (left internal thoracic artery-LAD) were performed. The resected mitral valve (anterior leaflet) contained the area of the myxomatous lesion histologically. The pathological mechanism of epidermolysis bullosa is thought to be the destruction of collagen fibers due to increased levels of enzyme collagenase. Therefore there may be a common cause of MVP and epidermolysis bullosa based upon an abnormality of collagen metabolism.
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PMID:[Mitral regurgitation due to mitral valve prolapse associated with epidermolysis bullosa: case report]. 1006 2