Inherited plasminogen deficiency presenting as ligneous vaginitis: a case report with molecular correlation and review of the literature.
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.
Lotan
Tamara L
TL
Pathology, University of Chicago, Chicago, IL 60637, USA. tamara.lotan@uchospitals.edu
Tefs
Katrin
K
Schuster
Volker
V
Miller
Jonathan
J
Manaligod
Jose
J
Filstead
Amy
A
Yamada
Seiko Diane
SD
Krausz
Thomas
T
D018262:Adenocarcinoma, Clear Cell / Q000473:pathology; D000328:Adult; D020147:Coagulation Protein Disorders / Q000150:complications* / Q000151:congenital* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010958:Plasminogen / Q000172:deficiency* / Q000235:genetics; D014625:Vaginal Neoplasms / Q000473:pathology; D014627:Vaginitis / Q000209:etiology* / Q000473:pathology*
D010958:Plasminogen