Plasminogen Deficiency, Type I

OMIM (2013)

C566897

20150927

61

0

A rare autosomal recessive disorder characterized by chronic muscosal pseudomembranous lesions consisting of subepithelial FIBRIN deposition and INFLAMMATION. The most common manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the CONJUNCTIVA of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency and replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive HYDROCEPHALUS. A slightly increased female:male ratio has been observed (1.4:1 to 2:1). Mutations in the PLG gene have been identified. OMIM: 217090

20121105

3

T047