Type 1 plasminogen deficiency
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Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered by local injury and/or infection and often recur after removal of the lesion; they are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. The most common clinical finding is ligenous ('wood-like') conjunctivitis, a condition marked by redness and subsequent formation of pseudomembranes of part of the eye that progresses to white, yellow-white or red thick masses with a wood-like consistency that replace the normal mucosa. Hydrocephalus may be present at birth in a small number of individuals.[1]
References
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Ginsburg D. Emery and Rimoin's Principles and Practice of Medical Genetics, 5th ed. In: . Hemophilia and Other Disorders of Hemostasis. Philadelphia:Elsevier Ltd; 2007:
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Type 1 plasminogen deficiency. Click on the link to go to OMIM and review these resources.
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