What are the earliest eye symptoms of ligneous conjunctivitis, and when should an ophthalmologist be consulted?

The first signs are thick, yellow‑white membranes on the inner eyelids that may cause redness, tearing, or a gritty sensation. If any membrane appears or vision changes occur, see an ophthalmologist within 24‑48 hours for evaluation and possible biopsy.

How are the woody growths on the conjunctiva treated, and can they be prevented from recurring?

Topical fibrinolytic agents (e.g., alteplase drops), corticosteroids, and anti‑inflammatory eye drops are used to dissolve existing membranes and reduce inflammation. Systemic plasminogen replacement therapy (plasminogen concentrate) has shown promise in decreasing recurrence. Regular follow‑up and prompt treatment of infections also help prevent new lesions.

My child has a growth in the airway that caused breathing difficulty. What emergency steps should be taken?

If the child shows stridor, cyanosis, or inability to speak, call emergency services immediately. In the hospital, an ENT specialist may perform urgent bronchoscopy to remove the obstructing lesion and secure the airway, often followed by plasminogen therapy to reduce regrowth.

Is congenital plasminogen deficiency inherited, and what counseling should families receive?

It is an autosomal recessive disorder; both parents must carry one defective PLG allele. Genetic counseling should be offered to discuss carrier testing for siblings, prenatal testing options, and the 25 % recurrence risk for each future pregnancy.

Congenital plasminogen deficiency

Congenital plasminogen deficiency is a rare multi-system disorder characterized by inflamed, woody growths on mucous membranes, most commonly affecting the eyes and potentially leading to vision loss.

Overview

Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths is usually triggered by infections or injury, but they may also occur spontaneously in the absence of known triggers. The growths may recur after being removed.

Symptoms & Clinical Features

The condition can affect various mucous membranes throughout the body, leading to several complications:

Ligneous conjunctivitis: A characteristic feature of this disorder affecting the conjunctiva (the mucous membranes that protect the white part of the eye and line the eyelids). A buildup of a protein called fibrin causes inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody (ligneous), inflamed growths that are yellow, white, or red. This most often occurs on the inside of the eyelids.
Corneal damage and vision loss: In about one-third of cases, ligneous conjunctivitis over the sclera grows onto the cornea (the clear covering protecting the iris and pupil). Such growths can tear the cornea, cause scarring, or obstruct vision, leading to vision loss.
Other mucous membrane growths: Growths can develop inside the mouth, gums, nasal cavity, and, in females, the vagina. Growths on the mucous membranes lining the gastrointestinal tract may result in ulcers.
Airway obstruction: Growths may develop in the windpipe, which can cause life-threatening airway obstruction, especially in children.
Occlusive hydrocephalus: In a small number of cases, affected individuals are born with impaired drainage of cerebrospinal fluid (CSF), resulting in a buildup of this fluid in the skull. It is unclear how this feature is related to the other signs and symptoms of the condition.

Frequency

The prevalence of congenital plasminogen deficiency has been estimated at 1.6 per one million people. This condition is believed to be underdiagnosed because growths in one area are often not recognized as being a feature of a disorder that affects many body systems. Mild cases likely never come to medical attention.

Causes

Congenital plasminogen deficiency is caused by mutations in the PLG gene. This gene provides instructions for making a protein called plasminogen. Enzymes called plasminogen activators convert plasminogen into the protein plasmin, which breaks down another protein called fibrin. Fibrin is the main protein involved in blood clots and is important for wound healing, creating the framework for normal tissue to grow back. Excess fibrin is broken down when no longer needed, and new, more flexible normal tissue takes its place.

PLG gene mutations can decrease the amount of plasminogen that is produced, its function, or both. This leads to two recognized forms of the condition:

Type I congenital plasminogen deficiency: Occurs when mutations affect plasminogen levels as well as the activity of the protein, characterized by the development of ligneous growths.
Type II congenital plasminogen deficiency (also called dysplasminogenemia): Occurs when mutations result in normal levels of plasminogen but with reduced activity. This form of the condition often has no symptoms.

A reduction in functional plasminogen results in less plasmin to break down fibrin, leading to a buildup of fibrin. The excess fibrin and the resulting inflammation of the tissue result in the inflamed woody growths characteristic of the condition. It is unclear why the excess fibrin builds up in the mucous membranes but does not usually result in abnormal clots in the blood vessels (thromboses). Researchers suggest that other enzymes in the blood may also break down fibrin, helping to compensate for the reduced plasminogen levels.

Associated Gene

PLG

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

Hypoplasminogenemia
Plasminogen deficiency, type I