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Inherited plasminogen deficiency presenting as ligneous vaginitis: a case report with molecular correlation and review of the literature.

Lotan TL, Tefs K, Schuster V, Miller J, Manaligod J, Filstead A, Yamada SD, Krausz T

Pathology, University of Chicago, Chicago, IL 60637, USA. tamara.lotan@uchospitals.edu

Type 1 plasminogen deficiency is an inherited and potentially life-threatening systemic disease in which patients develop pseudomembranous lesions of mucosal surfaces exposed to minor trauma. It is most commonly clinically encountered as ligneous conjunctivitis. We report the case of a 39-year-old woman with extensive involvement of the female genital tract. Microscopically, the vagina, cervix, endometrium, ovaries, and parametrial tissues showed innumerable deposits of paucicellular hyaline material with adjacent inflammation. Histochemical, immunofluorescent, and electron microscopic analyses revealed the amorphous material to be fibrin and collagen. In the plasma, functional plasminogen and plasminogen antigen levels were markedly decreased. Sequencing showed the patient to be a compound heterozygote for a missense and nonsense mutation in the plasminogen gene. Histologically, deposits in ligneous vaginitis are easily confused with amyloid or fibrinous debris. Recently, replacement therapy with plasminogen has been shown to significantly improve systemic symptoms, making ligneous mucositis a serious but treatable condition.

Published 24 September 2007 in Hum Pathol, 38(10): 1569-75.
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