Chromosome location: 6q26
Gene: PLG
Inheritance: autosomal recessive
Clinical findings:
(1) ligneous conjunctivitis, with bilateral pseudomembranes on the tarsal conjunctiva with a wood-like consistency that may be white, yellowish or reddish in color
(2) similar lesions develop on the mucous membranes such as the mouth, nasopharynx, trachea and genital tract
(3) impaired wound healing of mucuous membranes
(4) variable congenital occlusive hydrocephalus
(5) variable juvenile colloid milium
Laboratory findings:
(1) decreased serum plasminogen activity with decreased fibrinolysis
(2) decreased serum concentration of plasminogen antigen
The condition is not associated with increased thormboembolic events.
