TY - JOUR
T1 - Inherited plasminogen deficiency presenting as ligneous vaginitis
T2 - a case report with molecular correlation and review of the literature
AU - Lotan, Tamara L.
AU - Tefs, Katrin
AU - Schuster, Volker
AU - Miller, Jonathan
AU - Manaligod, Jose
AU - Filstead, Amy
AU - Yamada, Seiko Diane
AU - Krausz, Thomas
PY - 2007/10
Y1 - 2007/10
N2 - 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.
AB - 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.
KW - Ligneous conjunctivitis
KW - Plasminogen deficiency
KW - Vaginitis
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U2 - 10.1016/j.humpath.2007.05.007
DO - 10.1016/j.humpath.2007.05.007
M3 - Article
C2 - 17889676
AN - SCOPUS:34548678897
SN - 0046-8177
VL - 38
SP - 1569
EP - 1575
JO - Human pathology
JF - Human pathology
IS - 10
ER -