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Plasminogen Deficiency, Type I MeSH Supplementary Concept Data 2025


MeSH Supplementary
Plasminogen Deficiency, Type I
Unique ID
C566897
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C566897
Entry Term(s)
Dysplasminogenemia
Ligneous Conjunctivitis
Registry Numbers
0
Heading Mapped to
*Conjunctivitis
Plasminogen / deficiency
*Skin Diseases, Genetic
Frequency
61
Note
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
Date of Entry
2012/11/05
Revision Date
2015/09/27
Plasminogen Deficiency, Type I Preferred
Ligneous Conjunctivitis Narrower
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