Here I present: “Plasminogen Tochigi Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 质粒原栃木病。icd10=E88.02
INTRODUCTION.
Congenital plasminogen deficiency (PLG) is an autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous (‘wood-like‘) conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous 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).
Type-1 plasminogen deficiency (PLG1) is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type-2 plasminogen deficiency (PLG2), also known as ‘dysplasminogenemia,’ is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing.
Ligneous conjunctivitis is usually the initial and most common manifestation of type-1 congenital plasminogen deficiency. There is evidence that type-1 plasminogen deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding plasminogen (PLG) on cytogenetic location 6q26 and genomic coordinates 6:160,702,193-160,754,097. The screenshot of the PLG gene 51,905 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PLG in the 6q26 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:160,466,555 | LPAL2 | Lipoprotein(a)-like 2 |
| 6:160,531,482 | LPA | Apolipoprotein Lp(a) |
| 6:160,600,001 | DFNB38 | Deafness, autosomal recessive 38 |
| 6:160,600,001 | MRT28 | Intellectual developmental disorder, autosomal recessive 28 |
| 6:160,702,193 | PLG | Plasminogen |
| 6:160,991,769 | MAP3K4 | Mitogen-activated protein kinase kinase kinase 4 |
| 6:161,129,967 | AGPAT4 | 1-acylglycerol-3-phosphate O-acyltransferase 4 |
| 6:161,347,417 | PRKN | Parkin RBR E3 ubiquitin protein ligase |
| 6:162,727,132 | PACRG | Parkin coregulated gene |
| 6:163,413,065 | CAHM | Colorectal adenocarcinoma hypermethylated gene, noncoding |
